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Article

Promoter-interacting expression quantitative trait loci are enriched for functional genetic variants.

Nature genetics - 1 Jan 2021

Chandra Vivek, Bhattacharyya Sourya, Schmiedel Benjamin J, Madrigal Ariel, Gonzalez-Colin Cristian, Fotsing Stephanie, Crinklaw Austin, Seumois Gregory, Mohammadi Pejman, Kronenberg Mitchell, Peters Bjoern, Ay Ferhat, Vijayanand Pandurangan

Abstract excerpt

Expression quantitative trait loci (eQTLs) studies provide associations of genetic variants with gene expression but fall short of pinpointing functionally important eQTLs. Here, using H3K27ac HiChIP assays, we mapped eQTLs overlapping active cis-regulatory elements that interact with their target gene promoters (promoter-interacting eQTLs, pieQTLs) in five common immune cell types (Database of Immune Cell...

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Identifiers

PMID: 33349701
DOI: 10.1038/s41588-020-00745-3
PMCID: PMC8053422

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