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Chromatin Accessibility Quantitative Trait Locus (caQTL)

Definition
AI-generated

A chromatin accessibility quantitative trait locus (caQTL) is a genetic variant associated with open chromatin signal—typically peak counts or accessibility scores from ATAC-seq, DNase-seq, or similar assays—in a given cell type or tissue.

Topics
Core genetics
Synonyms
caQTL
Related
Assay for Transposase-Accessible Chromatin (ATAC-seq) Chromatin Colocalization

Why it matters in GWAS

caQTLs link GWAS variants to allele-specific effects on regulatory DNA accessibility, often in the same cell types implicated by disease biology, complementing eQTL and mQTL maps.

Example usage

"The fine-mapped SNP was a caQTL for a lymphoid-specific ATAC peak overlapping the gene promoter."

Assay for Transposase-Accessible Chromatin (ATAC-seq) Chromatin Colocalization Epigenome Epigenomics Expression Quantitative Trait Locus (eQTL) Methylation Quantitative Trait Locus (mQTL) Noncoding Variant
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References

  • Degner JF, et al. (2012). DNase I sensitivity QTLs are a major determinant of human expression variation. Nature.
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