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Epigenome

Definition
AI-generated

The epigenome comprises cell-type–specific chemical marks and structural states on DNA and histones—such as cytosine methylation, histone modifications, and nucleosome positioning—that regulate chromatin accessibility and transcription without changing the DNA sequence.

Topics
Sequencing and omics tech
Related
Chromatin Chromatin Accessibility Quantitative Trait Locus (caQTL) Epigenetics

Why it matters in GWAS

Noncoding disease variants often overlap regulatory elements defined by epigenomic assays; mQTL and caQTL maps link those variants to methylation and accessibility phenotypes for mechanistic follow-up.

Example usage

"The credible set overlapped an active enhancer chromatin state in monocytes from reference epigenome maps."

Chromatin Chromatin Accessibility Quantitative Trait Locus (caQTL) Epigenetics Epigenomics Methylation Quantitative Trait Locus (mQTL) Roadmap Epigenomics Consortium
Related-term network

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References

  • Roadmap Epigenomics Consortium, et al. (2015). Integrative analysis of 111 reference human epigenomes. Nature.
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