Comprehensive mapping of genetic variation at Epromoters reveals pleiotropic association with multiple disease traits.

ABSTRACT: There is growing evidence that a wide range of human diseases and physiological traits are influenced by genetic variation of cis-regulatory elements. We and others have shown that a subset of promoter elements, termed Epromoters, also function as enhancer regulators of distal genes. This opens a paradigm in the study of regulatory variants, as single nucleotide polymorphisms (SNPs) within Epromoters might influence the expression of several (distal) genes at the same time, which could disentangle the identification of disease-associated genes. Here, we built a comprehensive resource of human Epromoters using newly generated and publicly available high-throughput reporter assays. We showed that Epromoters display intrinsic and epigenetic features that distinguish them from typical promoter

SUBMITTER: Wan J 

PROVIDER: S-EPMC11879118 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature