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

Return Home



Study: Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. [PMID:18245381]
First author: Uda M
Journal: Proc Natl Acad Sci U S A
Date: 02/05/2008
Phenotype: Fetal hemoglobin levels
Study population: 4,305 individuals
Replication population: 521 individuals
Association P-value: 1 x 10-21
Odds ratio [95% confidence interval]: .58 [NR] s.d. decrease in HbF
Gene: HBE1 - OR51AB1P
Risk allele: A
Minor allele frequency (controls): 0.93

Lead SNP

Position: chr11:5,306,509 (Open in UCSC Genome Browser)
Distance to nearest TSS: 16,668 bp
GENCODE v7 location: Intron
RegulomeDB Score: 5a - ChIP-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.

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

Contact: marc.schaub AT
Last modified: 2011-12-15 01:19:20
SCGPM logo A project of the Center for Genomics and Personalized Medicine at Stanford University. Stanford logo