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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rs2297909

Associations

Study: Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. [PMID:21743469]
First author: Evans DM
Journal: Nat Genet
Date: 07/10/2011
Phenotype: Ankylosing spondylitis
Study population: 3,023 European ancestry cases, 8,779 European ancestry controls
Replication population: 2,111 European ancestry cases, 4,483 European ancestry controls
Association P-value: 5 x 10-12
Gene: KIF21B
Risk allele: G
Minor allele frequency (controls): 0.68

Lead SNP

rs2297909
Position: chr1:200,960,307 (Open in UCSC Genome Browser)
Distance to nearest TSS: 57,731 bp
GENCODE v7 location: Intron
RegulomeDB Score: 5b - DNaseI-seq peak (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 01:19:11
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