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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rs9804317

Associations

Study: Common genetic variation and performance on standardized cognitive tests. [PMID:20125193]
First author: Cirulli ET
Journal: Eur J Hum Genet
Date: 02/03/2010
Phenotype: Cognitive test performance
Study population: Up to 1,086 individuals
Association P-value: 7 x 10-06
Gene: MKI67 - MGMT

Lead SNP

rs9804317
Position: chr10:130,248,926 (Open in UCSC Genome Browser)
Distance to nearest TSS: 447,308 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 

SNPs in the linkage disequilibrium region sorted by decreasing amount of evidence supporting a functional role for the SNP:

rs11016249
Position: chr10:130,248,338 (Open in UCSC Genome Browser)
Distance to lead SNP: 588 bp
Distance to nearest TSS: 447,896 bp
GENCODE v7 location: Intergenic region
RegulomeDB Score: 6 - Motif (Open in RegulomeDB)
Linkage disequilibrium with Lead SNP (HapMap 2): CEU: D'=1.0, r2=1.0 / CHB: D'=1.0, r2=1.0 / JPT: D'=1.0, r2=1.0 / YRI: D'=1.0, r2=0.903

rs11016248
Position: chr10:130,248,247 (Open in UCSC Genome Browser)
Distance to lead SNP: 679 bp
Distance to nearest TSS: 447,987 bp
GENCODE v7 location: Intergenic region
No regulatory annotation found
Linkage disequilibrium with Lead SNP (HapMap 2): CEU: D'=1.0, r2=1.0 / CHB: D'=1.0, r2=1.0 / JPT: D'=1.0, r2=1.0 / YRI: D'=1.0, r2=1.0




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 01:19:20
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