Distal

camera-type eye(Human) | 183 records |
Format: chr:start-end (hg38)
Coordinate Validation Epigenomic status Core promoter element(s) Mutation TF registry
chr17:42422726-42422830 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:38; Clinvar:1; Clinvar (pathogenic):1
chr17:45585175-45585231 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:5
chr17:50189568-50189742 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:41; Clinvar:1; Clinvar (pathogenic):2
chr17:50190021-50190418 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:116; Clinvar:4; Clinvar (benign):4; Clinvar (pathogenic):1
chr17:50191594-50191901 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:74; Clinvar:3; Clinvar (benign):3; Clinvar (pathogenic):2
chr17:50197654-50197814 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:39; Clinvar:3
chr17:58324413-58324557 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:45
chr17:59690504-59690709 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:40
chr17:64975559-64975695 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:44
chr18:5238038-5238125 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:36
chr18:21831401-21831496 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:14
chr19:1876170-1876263 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:32
chr19:27793891-27794059 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:35
chr19:41352905-41353216 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:5; Rare:86; Clinvar (benign):2
chr19:48966400-48966643 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:73
  • 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