Coordinate | Validation | Epigenomic status | Core promoter element(s) | Mutation | TF registry |
---|---|---|---|---|---|
chr2:188996121-188996363 | Common:12; Rare:50; Clinvar:3; Clinvar (benign):2; Clinvar (pathogenic):3 | ||||
chr2:188997680-188997829 | Rare:48; Clinvar:1; Clinvar (benign):2; Clinvar (pathogenic):5 | ||||
chr2:188998252-188998996 | Common:1; Rare:168; Clinvar:4; Clinvar (benign):7; Clinvar (pathogenic):6 | ||||
chr2:188999455-188999999 | Common:1; Rare:133; Clinvar:3; Clinvar (benign):6; Clinvar (pathogenic):16 | ||||
chr2:189001393-189001614 | Common:1; Rare:65; Clinvar:3; Clinvar (benign):3; Clinvar (pathogenic):7 | ||||
chr2:189002180-189002355 | Rare:41; Clinvar (benign):2; Clinvar (pathogenic):2 | ||||
chr2:189003972-189004404 | Rare:123; Clinvar:10; Clinvar (benign):9; Clinvar (pathogenic):24 | ||||
chr2:189005268-189005462 | Rare:57; Clinvar:4; Clinvar (benign):4; Clinvar (pathogenic):10 | ||||
chr2:189006159-189006453 | Rare:81; Clinvar:7; Clinvar (benign):7; Clinvar (pathogenic):10 | ||||
chr2:191846459-191846571 | Common:2; Rare:51 | ||||
chr2:202036211-202036378 | Rare:54 | ||||
chr2:202376105-202376209 | Rare:56 | ||||
chr2:215433582-215433833 | Common:1; Rare:54 | ||||
chr2:215717873-215718109 | Rare:41 | ||||
chr2:217957128-217957379 | Common:3; Rare:50 |