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Promoter

Definition
AI-generated

A promoter is the DNA region immediately upstream (and sometimes downstream) of a gene’s transcription start site where the basal transcription machinery and regulatory factors assemble to initiate RNA polymerase transcription.

Topics
Molecular biology
Plural
promoters
Related
Candidate cis-Regulatory Element (cCRE) Chromatin Chromatin Accessibility Quantitative Trait Locus (caQTL)

Why it matters in GWAS

Lead variants and credible sets often overlap promoters or alter promoter chromatin and DNA methylation; eQTL, caQTL, and mQTL evidence at promoters supports regulatory mechanisms for noncoding associations.

Example usage

"The fine-mapped SNP lay in the proximal promoter and was a strong cis-eQTL for the same gene in liver."

Candidate cis-Regulatory Element (cCRE) Chromatin Chromatin Accessibility Quantitative Trait Locus (caQTL) Cis-Regulatory Element (CRE) Enhancer Expression Quantitative Trait Locus (eQTL) Noncoding Variant Transcription Start Site (TSS)
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Maston GA, Evans SK, Green MR. (2006). Transcriptional regulatory elements in the human genome. Annu Rev Genomics Hum Genet.
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