Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression

ABSTRACT: Genome-wide association studies (GWASs) have identified thousands of single nucleotide polymorphisms (SNPs) associated with human traits and diseases. But because the vast majority of these SNPs are located in the noncoding regions of the genome their risk promoting mechanisms are elusive. Employing a new methodology combining cistromics, epigenomics and genotype imputation we annotate the noncoding regions of the genome in breast cancer cells and systematically identify the functional nature of SNPs associated with breast cancer risk. Our results demonstrate that breast cancer risk-associated SNPs are enriched in the cistromes of FOXA1 and ESR1 and the epigenome of H3K4me1 in a cancer and cell-type-specific manner. Furthermore, the majority of these risk-associated SNPs modulate the affin

ORGANISM(S): Homo sapiens

SUBMITTER: xiaoyang zhang 

PROVIDER: E-GEOD-31151 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress