SNP Detail For rs7240004
1.Mapping Information
Human SNP ID rs7240004
Human chromosome chr18
Human SNP position 48868651
Pig chromosome chr2
Pig SNP position 124473482
2.Annotation Information
PubMed ID23128233
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/23128233
StudyHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Disease/TraitInflammatory bowel disease
Initial sample12,924 European ancestry cases, 21,442 European ancestry controls
Replication sample25,683 European ancestry cases, 17,015 European ancestry controls
Region18q21.1
Chromosome idchr18
Chromosome position48868651
Reported geneSMAD7
Mapped geneCTIF - SMAD7
Upstream gene id9811
Downstream gene id4092
SNP gene ids
Upstream gene distance5434
Downstream gene distance51202
SNP risk allelers7240004-A
SNPsrs7240004
Merged0
SNP id current7240004
Contextregulatory_region_variant
Intergenic1
Allele frequency0.616
P value0.000000001
Pvalue mlog9
P value text
Or beta1.057
%95 Ci[1.026-1.088]
PlatformAffymetrix, Illumina [1230000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST001725
PubMed ID26192919
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26192919
StudyAssociation analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Disease/TraitUlcerative colitis
Initial sample6,968 European ancestry cases, 20,464 European ancestry controls
Replication sample10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls
Region18q21.1
Chromosome idchr18
Chromosome position48868651
Reported geneNR
Mapped geneCTIF - SMAD7
Upstream gene id9811
Downstream gene id4092
SNP gene ids
Upstream gene distance5434
Downstream gene distance51202
SNP risk allelers7240004-A
SNPsrs7240004
Merged0
SNP id current7240004
Contextregulatory_region_variant
Intergenic1
Allele frequency0.62
P value0.0000000003
Pvalue mlog9.52287874528033
P value text(EA)
Or beta1.0858526
%95 Ci
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitulcerative colitis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000729
Study accessionGCST003045
PubMed ID26192919
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26192919
StudyAssociation analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Disease/TraitInflammatory bowel disease
Initial sample12,882 European ancestry cases, 21,770 European ancestry controls
Replication sample25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls
Region18q21.1
Chromosome idchr18
Chromosome position48868651
Reported geneNR
Mapped geneCTIF - SMAD7
Upstream gene id9811
Downstream gene id4092
SNP gene ids
Upstream gene distance5434
Downstream gene distance51202
SNP risk allelers7240004-A
SNPsrs7240004
Merged0
SNP id current7240004
Contextregulatory_region_variant
Intergenic1
Allele frequency0.62
P value0.0000000001
Pvalue mlog10
P value text(EA)
Or beta1.068784
%95 Ci
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST003043