Cell Specificity of Human Regulatory Annotations and Their Genetic Effects on Gene Expression.

ABSTRACT: Epigenomic signatures from histone marks and transcription factor (TF)-binding sites have been used to annotate putative gene regulatory regions. However, a direct comparison of these diverse annotations is missing, and it is unclear how genetic variation within these annotations affects gene expression. Here, we compare five widely used annotations of active regulatory elements that represent high densities of one or more relevant epigenomic marks-"super" and "typical" (nonsuper) enhancers, stretch enhancers, high-occupancy target (HOT) regions, and broad domains-across the four matched human cell types for which they are available. We observe that stretch and super enhancers cover cell type-specific enhancer "chromatin states," whereas HOT regions and broad domains comprise more ubiquito

SUBMITTER: Varshney A 

PROVIDER: S-EPMC6366912 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature