Linking Disease Associations with Regulatory Information in the Human Genome - Companion website
Marc A. Schaub, Alan P. Boyle, Anshul Kundaje, Serafim Batzoglou, Michael Snyder, Stanford University

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rs2310173

Associations

Study: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. [PMID:21297633]
First author: Anderson CA
Journal: Nat Genet
Date: 02/06/2011
Phenotype: Ulcerative colitis
Study population: 6,687 European ancestry cases, 19,718 European ancestry controls
Replication population: 9,628 European ancestry cases, 12,917 European ancestry controls
Association P-value: 3 x 10-12
Odds ratio [95% confidence interval]: 1.09 [1.05-1.14]
Gene: IL1R2 - IL1R1
Risk allele: T
Minor allele frequency (controls): 0.46

Study: Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. [PMID:20062062]
First author: Reveille JD
Journal: Nat Genet
Date: 01/10/2010
Phenotype: Ankylosing spondylitis
Study population: 2,053 European descent cases, 5,140 European descent controls
Replication population: 898 British cases, 1,518 British controls
Association P-value: 5 x 10-07
Odds ratio [95% confidence interval]: 1.18 [1.10-1.27]
Gene: IL1R2 - IL1R1
Risk allele: A
Minor allele frequency (controls): 0.45

Lead SNP

rs2310173
Position: chr2:102,663,628 (Open in UCSC Genome Browser)
Distance to nearest TSS: 128,519 bp
GENCODE v7 location: Intergenic region
RegulomeDB Score: 6 - Motif (Open in RegulomeDB)

Linkage disequilibrium region

Linkage disequilibrium threshold:
 - In all HapMap 2 populations: r2≥0.8 r2≥0.9 r2=1.0 
 - In the HapMap 2 CEU population r2≥0.8 r2≥0.9 r2=1.0 

No SNPs found for this LD threshold.




Credits:
This resource uses data from:
 - The NHGRI GWAS catalog (accessed August 10, 2011)
 - The ENCODE project
 - RegulomeDB
 - The HapMap project

Contact: marc.schaub AT cs.stanford.edu
Last modified: 2011-12-15 01:19:12
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