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Identifying genetic variants associated with chromatin looping and genome function
Identifying genetic variants associated with chromatin looping and genome function
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Identifying genetic variants associated with chromatin looping and genome function
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Identifying genetic variants associated with chromatin looping and genome function
Identifying genetic variants associated with chromatin looping and genome function
Journal Article

Identifying genetic variants associated with chromatin looping and genome function

2024
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Overview
Here we present a comprehensive HiChIP dataset on naïve CD4 T cells (nCD4) from 30 donors and identify QTLs that associate with genotype-dependent and/or allele-specific variation of HiChIP contacts defining loops between active regulatory regions (iQTLs). We observe a substantial overlap between iQTLs and previously defined eQTLs and histone QTLs, and an enrichment for fine-mapped QTLs and GWAS variants. Furthermore, we describe a distinct subset of nCD4 iQTLs, for which the significant variation of chromatin contacts in nCD4 are translated into significant eQTL trends in CD4 T cell memory subsets. Finally, we define connectivity-QTLs as iQTLs that are significantly associated with concordant genotype-dependent changes in chromatin contacts over a broad genomic region (e.g., GWAS SNP in the RNASET2 locus). Our results demonstrate the importance of chromatin contacts as a complementary modality for QTL mapping and their power in identifying previously uncharacterized QTLs linked to cell-specific gene expression and connectivity. Here, the authors present an HiChIP dataset on naïve CD4 T cells from 30 donors. They investigate genotype-dependent and allele-specific variation of chromatin loops between active regulatory elements, reporting loop-associated variants linked to dynamic changes in gene expression.