From: Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families
SNP | Location | Conserved region | Open chromatina; | Regulatory chromatin statea; | Protein binding | Motifs changed | |
---|---|---|---|---|---|---|---|
GERP | SiPhy | Cell IDb | (Cell IDb) | ||||
rs4245443 | intron | No | No | – | – | – | Pou1f1_2, YY1_known6 |
rs2508740 | intron | No | Yes | – | – | – | – |
rs11600501 | intron | Yes | Yes | – | 7_Weak_Enhancer (HepG2) | – | EWSR1-FLI1, GATA_known8, |
TATA_disc7 | |||||||
rs11363199 | intron | No | No | – | 7_Weak_Enhancer (HepG2) | – | Foxa_known4, Pou1f1_2, |
Pou2f2_known2, Pou3f2_2, Sox_5 | |||||||
rs184345272 | exon | Yes | Yes | – | – | – | NRSF_known3 |
rs3753051 | exon | Yes | Yes | HeLa-S3 | – | – | CEBPB_disc2, Foxa_known2 |
rs2513513 | 3′UTR | Yes | Yes | HA-sp., HCPEpiC, | 5_Strong_Enhancer (Huvec) | – | – |
HMVEC-dBl-Neo | |||||||
rs148932730 | 3′UTR | Yes | Yes | – | 4_Strong_Enhancer (Huvec) | – | DMRT2, Nanog_disc2, Sox_13, |
Sox_14, Sox_16, Sox_18, Sox_19, | |||||||
Sox_2, Sox_4, Sox_9 | |||||||
rs187735484 | 3′UTR | Yes | No | HMVEC-LBl, | 4_Strong_Enhancer (Huvec) | – | TATA_disc7 |
HMVEC-dLy-Neo | |||||||
rs72932407 | 3′UTR | Yes | No | HBMEC, HMVEC-LBl, | 4_Strong_Enhancer (Huvec) | – | MAZ, SREBP_known3 |
HMVEC-dLy-Neo, | |||||||
HPAEC, HRGEC | |||||||
rs1044265 | 3′UTR | Yes | Yes | HUVEC | 5_Strong_Enhancer (Huvec) | – | Foxo_3, Mef2_known1, Mef2_known6, |
Pou2f2_known2, TCF4_known3 |