Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo.

ABSTRACT: The function of human regulatory regions depends exquisitely on their local genomic environment and on cellular context, complicating experimental analysis of common disease- and trait-associated variants that localize within regulatory DNA. We use allelically resolved genomic DNase I footprinting data encompassing 166 individuals and 114 cell types to identify >60,000 common variants that directly influence transcription factor occupancy and regulatory DNA accessibility in vivo. The unprecedented scale of these data enables systematic analysis of the impact of sequence variation on transcription factor occupancy in vivo. We leverage this analysis to develop accurate models of variation affecting the recognition sites for diverse transcription factors and apply these models to discriminate

SUBMITTER: Maurano MT 

PROVIDER: S-EPMC4666772 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature