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SNP Detail For rs4757391
1.Mapping Information
| Human SNP ID | rs4757391 |
|---|---|
| Human chromosome | chr11 |
| Human SNP position | 16281393 |
| Pig chromosome | chr2 |
| Pig SNP position | 45877053 |
2.Annotation Information
| PubMed ID | 25249183 |
|---|---|
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/25249183 |
| Study | Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. |
| Disease/Trait | Systolic blood pressure |
| Initial sample | 11,816 Han Chinese ancestry individuals |
| Replication sample | 69,146 Han Chinese ancestry individuals |
| Region | 11p15.2 |
| Chromosome id | chr11 |
| Chromosome position | 16281393 |
| Reported gene | SOX6 |
| Mapped gene | SOX6 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 55553 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs4757391-C |
| SNPs | rs4757391 |
| Merged | 0 |
| SNP id current | 4757391 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.28 |
| P value | 0.000000005 |
| Pvalue mlog | 8.30102999566398 |
| P value text | |
| Or beta | 0.88 |
| %95 Ci | [0.59-1.17] unit increase |
| Platform | Affymetrix, Illumina [2485448] (imputed) |
| CNV | N |
| Mapped trait | systolic blood pressure |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006335 |
| Study accession | GCST002630 |
| PubMed ID | 25249183 |
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/25249183 |
| Study | Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. |
| Disease/Trait | Diastolic blood pressure |
| Initial sample | 11,816 Han Chinese ancestry individuals |
| Replication sample | 69,146 Han Chinese ancestry individuals |
| Region | 11p15.2 |
| Chromosome id | chr11 |
| Chromosome position | 16281393 |
| Reported gene | SOX6 |
| Mapped gene | SOX6 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 55553 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs4757391-C |
| SNPs | rs4757391 |
| Merged | 0 |
| SNP id current | 4757391 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.28 |
| P value | 0.000000005 |
| Pvalue mlog | 8.30102999566398 |
| P value text | |
| Or beta | 0.49 |
| %95 Ci | [0.31-0.67] unit increase |
| Platform | Affymetrix, Illumina [2485448] (imputed) |
| CNV | N |
| Mapped trait | diastolic blood pressure |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006336 |
| Study accession | GCST002631 |
| PubMed ID | 25249183 |
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/25249183 |
| Study | Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. |
| Disease/Trait | Hypertension |
| Initial sample | 5,065 Han Chinese ancestry cases, 4,404 Han Chinese ancestry controls |
| Replication sample | 29,799 Han Chinese ancestry cases, 39,347 Han Chinese ancestry controls |
| Region | 11p15.2 |
| Chromosome id | chr11 |
| Chromosome position | 16281393 |
| Reported gene | SOX6 |
| Mapped gene | SOX6 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 55553 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs4757391-C |
| SNPs | rs4757391 |
| Merged | 0 |
| SNP id current | 4757391 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.28 |
| P value | 0.000003 |
| Pvalue mlog | 5.52287874528033 |
| P value text | |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix, Illumina [2485448] (imputed) |
| CNV | N |
| Mapped trait | hypertension |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000537 |
| Study accession | GCST002627 |
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