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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rs10928927

Associations

Study: Genome-wide association study of smoking behaviours in patients with COPD. [PMID:21685187]
First author: Siedlinski M
Journal: Thorax
Date: 06/16/2011
Phenotype: Chronic obstructive pulmonary disease
Study population: 3,441 Caucasian ever-smokers with COPD
Association P-value: 3 x 10-07
Odds ratio [95% confidence interval]: 17.54 [NR]
Gene: ISCA1P6 - RPL22P7
Risk allele: C
Minor allele frequency (controls): 0.16

Lead SNP

rs10928927
Position: chr2:130,468,366 (Open in UCSC Genome Browser)
Distance to nearest TSS: 283,267 bp
GENCODE v7 location: Intergenic region
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 01:19:12
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