Proximal

gastroesophageal sphincter(Human) | 6924 records |

Coordinate Validation Epigenomic status Core promoter element(s) Mutation TF registry
chr3:48440035-48440324 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:110
chr3:48446650-48446743 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:31
chr3:48473010-48473249 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:54
chr3:48504072-48504277 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:2; Rare:65
chr3:48685847-48685994 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:50
chr3:48847676-48847973 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:84
chr3:48918776-48918930 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:2; Rare:93
chr3:49007086-49007512 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:2; Rare:161
chr3:49021498-49021720 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:55; Clinvar:1
chr3:49021936-49022151 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:61; Clinvar:2; Clinvar (pathogenic):1
chr3:49029277-49029338 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:21
chr3:49029365-49029475 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:80
chr3:49104720-49104913 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:83; Clinvar:1; Clinvar (benign):4
chr3:49121948-49122328 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:128; Clinvar:3; Clinvar (benign):2; Clinvar (pathogenic):1
chr3:49132774-49133161 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:87; Clinvar:3
  • Legend for epigenomic status:
  • K27ac K4me3 CTCF : Enriched for H3K27ac and DNaseI signal
  • K27ac K4me3 CTCF : Enriched for H3K4me3 and DNaseI signal
  • K27ac K4me3 CTCF : Enriched for CTCF binding signal
  • Legend for core promoter element:
  • I DPR TATA I DPR TATA : Found Initiator
  • I DPR TATA I DPR TATA : Found DPR
  • I DPR TATA I DPR TATA : Enriched TATA box