Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression.
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ABSTRACT: While genetic variation at chromatin loops is relevant for human disease, the relationships between contact propensity (the probability that loci at loops physically interact), genetics, and gene regulation are unclear. We quantitatively interrogate these relationships by comparing Hi-C and molecular phenotype data across cell types and haplotypes. While chromatin loops consistently form across different cell types, they have subtle quantitative differences in contact frequency that are associated with larger changes in gene expression and H3K27ac. For the vast majority of loci with quantitative differences in contact frequency across haplotypes, the changes in magnitude are smaller than those across cell types; however, the proportional relationships between contact propensity, gene expre
SUBMITTER: Greenwald WW
PROVIDER: S-EPMC6401380 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
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