Proximal

SJSA1(Human) | 3293 records |

Coordinate Validation Epigenomic status Core promoter element(s) Mutation TF registry
chr4:177442359-177442530 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:104; Clinvar:2; Clinvar (pathogenic):1
chr4:182143831-182143944 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:2; Rare:26
chr4:182144438-182144731 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:3; Rare:95
chr4:183659077-183659401 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:1; Rare:104
chr4:184649406-184649826 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:4; Rare:135
chr4:189940631-189940991 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:11; Rare:132
chr5:218134-218361 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:3; Rare:90; Clinvar:5; Clinvar (benign):4; Clinvar (pathogenic):2
chr5:443074-443257 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:7; Rare:82
chr5:892541-892999 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:5; Rare:149
chr5:1799785-1799986 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:7; Rare:95
chr5:1801300-1801447 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:4; Rare:71; Clinvar:3; Clinvar (benign):1
chr5:7869000-7869204 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:2; Rare:103; Clinvar (benign):1
chr5:10249869-10250427 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:19; Rare:260; Clinvar:5; Clinvar (benign):2
chr5:10353597-10353896 K27ac K4me3 CTCF I DPR TATA I DPR TATA Common:3; Rare:108
chr5:16465731-16465902 K27ac K4me3 CTCF I DPR TATA I DPR TATA Rare:32
  • 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