Figure 2.

Regulatory Landscape at the 14q32.33 Endometrial Cancer Risk Locus

(A) The location of the candidate SNPs are represented by black ticks, and the PRE is shown as a black box. Gene structures are depicted with exons (vertical boxes) joined by introns (lines). The subset of enhancers predicted in Hnisz et al.²³ and PreSTIGE²⁴ which overlap the candidate causal SNPs are shown as colored bars, where the color matches its predicted gene target. Regions showing histone binding (H3K4Me1, indicative of regulatory regions; H3K4Me3, indicative of promoters; and H3K27Ac, indicative of active enhancers), DNAseI hypersensitivity (indicative of open chromatin, with darker shading indicating stronger experimental signal) and transcription factor (TF) binding in multiple ENCODE cell lines are indicated at the bottom of the panel.

(B) Zoomed-in view of the location of candidate SNPs, PRE, and nearby gene promoter regions.