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SNP Detail For rs6983267
1.Mapping Information
| Human SNP ID | rs6983267 |
|---|---|
| Human chromosome | chr8 |
| Human SNP position | 127401060 |
| Pig chromosome | chr4 |
| Pig SNP position | 12992984 |
2.Annotation Information
| PubMed ID | 17618284 |
|---|---|
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/17618284 |
| Study | A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. |
| Disease/Trait | Colorectal cancer |
| Initial sample | 930 European ancestry cases, 960 European ancestry controls |
| Replication sample | 7,334 European ancestry cases, 5,246 European ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | intergenic |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.49 |
| P value | 0.00000000000001 |
| Pvalue mlog | 14 |
| P value text | |
| Or beta | 1.27 |
| %95 Ci | [1.16-1.39] |
| Platform | Illumina [547647] |
| CNV | N |
| Mapped trait | colorectal cancer |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
| Study accession | GCST000053 |
| PubMed ID | 17401363 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/17401363 |
| Study | Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. |
| Disease/Trait | Prostate cancer |
| Initial sample | 1,172 European ancestry cases, 1,157 European ancestry controls |
| Replication sample | 3,124 European ancestry cases, 3,142 European ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | intergenic |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.5 |
| P value | 0.0000000000009 |
| Pvalue mlog | 12.0457574905606 |
| P value text | |
| Or beta | 1.26 |
| %95 Ci | [1.13-1.41] |
| Platform | Illumina [538548] |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST000017 |
| PubMed ID | 18372905 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/18372905 |
| Study | A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. |
| Disease/Trait | Colorectal cancer |
| Initial sample | 922 European ancestry cases, 927 European ancestry controls |
| Replication sample | 17,089 European ancestry cases, 16,862 European ancestry controls, 783 cases, 664 controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | intergenic |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-? |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.48 |
| P value | 0.00000000007 |
| Pvalue mlog | 10.1549019599857 |
| P value text | |
| Or beta | 1.24 |
| %95 Ci | [1.17-1.33] |
| Platform | Illumina [547647] |
| CNV | N |
| Mapped trait | colorectal cancer |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
| Study accession | GCST000169 |
| PubMed ID | 18264097 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/18264097 |
| Study | Multiple newly identified loci associated with prostate cancer susceptibility. |
| Disease/Trait | Prostate cancer |
| Initial sample | 1,854 European ancestry cases, 1,894 European ancestry controls |
| Replication sample | 3,268 European ancestry cases, 3,366 European ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | intergenic |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.49 |
| P value | 0.0000000000009 |
| Pvalue mlog | 12.0457574905606 |
| P value text | |
| Or beta | 1.42 |
| %95 Ci | [NR] |
| Platform | Illumina [541129] |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST000152 |
| PubMed ID | 18264096 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/18264096 |
| Study | Multiple loci identified in a genome-wide association study of prostate cancer. |
| Disease/Trait | Prostate cancer |
| Initial sample | 1,172 European ancestry cases, 1,157 European ancestry controls |
| Replication sample | 3,941 European ancestry cases, 3,964 European ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | intergenic |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.53 |
| P value | 0.000000000007 |
| Pvalue mlog | 11.1549019599857 |
| P value text | |
| Or beta | 1.28 |
| %95 Ci | [1.15-1.45] |
| Platform | Illumina [527869] |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST000154 |
| PubMed ID | 21743057 |
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21743057 |
| Study | Genome-wide association study identifies new prostate cancer susceptibility loci. |
| Disease/Trait | Prostate cancer |
| Initial sample | 2,782 European ancestry cases, 4,458 European ancestry controls |
| Replication sample | 7,358 European ancestry cases, 6,732 European ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | intergenic |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.000009 |
| Pvalue mlog | 5.04575749056067 |
| P value text | |
| Or beta | 1.2 |
| %95 Ci | [1.11-1.32] |
| Platform | Illumina [571243] |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST001147 |
| PubMed ID | 21242260 |
| Journal | Gut |
| Link | www.ncbi.nlm.nih.gov/pubmed/21242260 |
| Study | Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. |
| Disease/Trait | Colorectal cancer |
| Initial sample | 1,583 Japanese ancestry cases, 1,898 Japanese ancestry controls |
| Replication sample | 4,584 Japanese ancestry cases, 225 Korean ancestry distal cases, 2,973 East Asian ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | intergenic |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.34 |
| P value | 0.00000002 |
| Pvalue mlog | 7.69897000433601 |
| P value text | (colorectal cancer) |
| Or beta | 1.18 |
| %95 Ci | [1.11-1.25] |
| Platform | Illumina [391749] |
| CNV | N |
| Mapped trait | colorectal cancer |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
| Study accession | GCST000948 |
| PubMed ID | 23266556 |
| Journal | Gastroenterology |
| Link | www.ncbi.nlm.nih.gov/pubmed/23266556 |
| Study | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. |
| Disease/Trait | Colorectal cancer |
| Initial sample | 12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls |
| Replication sample | 958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | MYC |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.5 |
| P value | 0.00000000001 |
| Pvalue mlog | 11 |
| P value text | |
| Or beta | 1.13 |
| %95 Ci | [1.09-1.18] |
| Platform | Affymetrix, Illumina [2708280] (imputed) |
| CNV | N |
| Mapped trait | colorectal cancer |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
| Study accession | GCST001787 |
| PubMed ID | 24836286 |
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/24836286 |
| Study | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. |
| Disease/Trait | Colorectal cancer |
| Initial sample | 2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls |
| Replication sample | 12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | intergenic |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.38 |
| P value | 0.00000000000005 |
| Pvalue mlog | 13.3010299956639 |
| P value text | (East Asian) |
| Or beta | 1.14 |
| %95 Ci | [1.10-1.18] |
| Platform | Affymetrix, Illumina [2400000] (imputed) |
| CNV | N |
| Mapped trait | colorectal cancer |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
| Study accession | GCST002454 |
| PubMed ID | 24740154 |
| Journal | PLoS One |
| Link | www.ncbi.nlm.nih.gov/pubmed/24740154 |
| Study | Genome-wide association scan for variants associated with early-onset prostate cancer. |
| Disease/Trait | Prostate cancer (early onset) |
| Initial sample | 931 European ancestry cases, 4,120 European ancestry controls |
| Replication sample | 2,571 European ancestry cases, 921 European ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | NR |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.00000001 |
| Pvalue mlog | 8 |
| P value text | |
| Or beta | 1.36 |
| %95 Ci | [NR] |
| Platform | Illumina [2639562] (imputed) |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST002413 |
| PubMed ID | 24753544 |
| Journal | Cancer Epidemiol Biomarkers Prev |
| Link | www.ncbi.nlm.nih.gov/pubmed/24753544 |
| Study | Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. |
| Disease/Trait | Prostate cancer |
| Initial sample | 1,146 European ancestry cases, 1,804 European ancestry controls |
| Replication sample | 1,854 European ancestry cases, 1,437 European ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | SRRM1P1, POU5F1B |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | |
| P value | 0.000000000000004 |
| Pvalue mlog | 14.397940008672 |
| P value text | |
| Or beta | 0.29 |
| %95 Ci | [0.22-0.36] unit increase |
| Platform | Illumina [514432] (imputed) |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST002421 |
| PubMed ID | 25939597 |
| Journal | Nat Commun |
| Link | www.ncbi.nlm.nih.gov/pubmed/25939597 |
| Study | Two susceptibility loci identified for prostate cancer aggressiveness. |
| Disease/Trait | Prostate cancer |
| Initial sample | 4,600 European ancestry cases, 2,941 European ancestry controls |
| Replication sample | 7,779 European ancestry cases, 7,623 European ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | NR |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.499 |
| P value | 0.0000000004 |
| Pvalue mlog | 9.39794000867203 |
| P value text | |
| Or beta | 1.23 |
| %95 Ci | [1.15-1.32] |
| Platform | Illumina [1531807] (imputed) |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST002890 |
| PubMed ID | 26151821 |
| Journal | Nat Commun |
| Link | www.ncbi.nlm.nih.gov/pubmed/26151821 |
| Study | Genome-wide association study of colorectal cancer identifies six new susceptibility loci. |
| Disease/Trait | Colorectal cancer |
| Initial sample | 18,299 European ancestry cases, 19,656 European ancestry controls |
| Replication sample | 4,725 East Asian ancestry cases, 9,969 East Asian ancestry controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | MYC |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.5 |
| P value | 0.00000000000004 |
| Pvalue mlog | 13.397940008672 |
| P value text | |
| Or beta | 1.1235955 |
| %95 Ci | [1.09-1.15] |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | colorectal cancer |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005842 |
| Study accession | GCST003017 |
| PubMed ID | 26034056 |
| Journal | Cancer Discov |
| Link | www.ncbi.nlm.nih.gov/pubmed/26034056 |
| Study | A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. |
| Disease/Trait | Prostate cancer |
| Initial sample | 6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls |
| Replication sample | 4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | NR |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.51 |
| P value | 3E-24 |
| Pvalue mlog | 23.5228787452803 |
| P value text | (European) |
| Or beta | 1.25 |
| %95 Ci | [1.20-1.31] |
| Platform | Affymetrix [up to 19977088] (imputed) |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST002944 |
| PubMed ID | 26034056 |
| Journal | Cancer Discov |
| Link | www.ncbi.nlm.nih.gov/pubmed/26034056 |
| Study | A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. |
| Disease/Trait | Prostate cancer |
| Initial sample | 6,406 European ancestry cases, 601 African American cases, 288 East Asian ancestry cases, 488 Latino cases30,866 European ancestry controls, 1,650 African American controls, 2,938 East Asian ancestry controls, 3,141 Latino controls |
| Replication sample | 4,599 European ancestry cases, 2,265 African American cases, 2,940 European ancestry controls, 2,414 African American controls |
| Region | 8q24.21 |
| Chromosome id | chr8 |
| Chromosome position | 127401060 |
| Reported gene | NR |
| Mapped gene | CASC8, CCAT2 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 727677, 101805488 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs6983267-G |
| SNPs | rs6983267 |
| Merged | 0 |
| SNP id current | 6983267 |
| Context | non_coding_transcript_exon_variant |
| Intergenic | 0 |
| Allele frequency | 0.51 |
| P value | 3E-27 |
| Pvalue mlog | 26.5228787452803 |
| P value text | |
| Or beta | 1.25 |
| %95 Ci | [1.20-1.30] |
| Platform | Affymetrix [up to 19977088] (imputed) |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST002944 |
| PubMed ID | 22219177 |
| Journal | Carcinogenesis |
| Link | www.ncbi.nlm.nih.gov/pubmed/22219177 |
| Study | A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. |
| Disease/Trait | Prostate cancer (gene x gene interaction) |
| Initial sample | 4,723 European ancestry cases, 4,792 European ancestry controls |
| Replication sample | NA |
| Region | 15q14 x 8q24.21 |
| Chromosome id | chr15 x 8 |
| Chromosome position | 34776108 x 127401060 |
| Reported gene | ACTC1 x NR |
| Mapped gene | LOC101928174 x CCAT2, CASC8 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs543686-? x rs6983267-? |
| SNPs | rs543686 x rs6983267 |
| Merged | 0 |
| SNP id current | |
| Context | intron_variant x non_coding_transcript_exon_variant |
| Intergenic | |
| Allele frequency | NR |
| P value | 0.000004 |
| Pvalue mlog | 5.39794000867203 |
| P value text | |
| Or beta | 1.24 |
| %95 Ci | [1.13-1.35] |
| Platform | Affymetrix, Illumina [1117531] (imputed) |
| CNV | N |
| Mapped trait | prostate carcinoma |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001663 |
| Study accession | GCST001370 |
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