Coordinate | Validation | Epigenomic status | Core promoter element(s) | Mutation | TF registry |
---|---|---|---|---|---|
chr2:176637582-176637736 | Common:2; Rare:49 | ||||
chr2:188969438-188969507 | Rare:8 | ||||
chr2:188984222-188984540 | Common:1; Rare:48 | ||||
chr2:188990092-188990375 | Rare:82; Clinvar:3; Clinvar (benign):5; Clinvar (pathogenic):6 | ||||
chr2:188994690-188995099 | Common:1; Rare:86; Clinvar:2; Clinvar (benign):6; Clinvar (pathogenic):4 | ||||
chr2:188997161-188997389 | Common:5; Rare:60; Clinvar:6; Clinvar (benign):9; Clinvar (pathogenic):6 | ||||
chr2:188999436-188999902 | Common:1; Rare:118; Clinvar:3; Clinvar (benign):6; Clinvar (pathogenic):16 | ||||
chr2:189002155-189002351 | Rare:43; Clinvar (benign):1; Clinvar (pathogenic):2 | ||||
chr2:189003972-189004436 | Rare:128; Clinvar:10; Clinvar (benign):9; Clinvar (pathogenic):24 | ||||
chr2:215433582-215433847 | Common:1; Rare:58 | ||||
chr2:215621431-215621774 | Common:2; Rare:55 | ||||
chr2:240456692-240456813 | Rare:29 | ||||
chr20:36049976-36050164 | Common:1; Rare:41 | ||||
chr20:36050208-36050526 | Common:1; Rare:86 | ||||
chr20:36050538-36050732 | Common:1; Rare:76 |