Table 5.
Bioinformatic evidence of potential functionality of GATA3 SNPs
| Variant | Promoter histone marks |
Enhancer histone marks |
DNAse sensitivity | Proteins bound in Chip-Seq experiment |
Motifs changed | eQTL | Evolutionary conservation |
|---|---|---|---|---|---|---|---|
| rs1244186 | 19 tissues (including BRST) | 9 tissues (including BRST) | 35 tissues (including BRST) | FOXA1,FOXA2,HNF4A,P300,TCF4,HAE2F1 | NANOG,TATA | GATA3 in lymphoblastoids | Yes |
| rs2275806 | 15 tissues (including BRST) | 14 tissues (including BRST) | 36 tissues (including BRST) | CTCF,RAD21,SMC3,YY1,CTCFL,HAE2F1,POL2,ZNF143 | GR,ZBRK1 | ||
| rs369421 | 15 tissues (including BRST) | 5 tissues (including BRST) | 26 tissues (including BRST) | BATF,NFKB,PU1,POL2,CTBP2 | EBF,ETS,PU1,STAT,TATA | GATA3 in whole blood | Yes |
| rs2229359 | 6 tissues (including BRST) | 9 tissues (including BRST) | 11 tissues (including BRST) | CMYC,POL2 | EGR1,LBP1,NRSF,PAX4 | Yes | |
| rs3781093 | 10 tissues (including BRST) | 9 tissues (including BRST) | 15 tissues (including BRST) | ZNF263 | CEMP1 and FCGR2B in breast tumors | ||
| rs3802604 | 14 tissues (including BRST) | 10 tissues (including BRST) | 34 tissues (including BRST) | BATF,EBF1,POL2,SIX5,NFKB,P300,RAD21,ZNF263 | BP1,ESR1,EWSR1-FL1,GR,NRSF,PU1,RAD21,SMC3,SPZ1,TATA,WT1,ZNF263,ZNF143 | GATA3 in blood monocytes | Yes |
| rs3824662 | BRST | 13 tissues (including BRST) | 12 tissues (including BRST) | PU1,HAE2F1 | NF1,NRSF,PAX6,ZBTB3 | XAGE1B in blood mononcytes | |
| rs568727 | ESC, KID | 10 tissues (including BRST) | 9 tissues (including BRST) | POL2 | MAF,NR2F2 | ||
| rs3802600 | 4 tissues | BLD | GATA2 | GR,HSF | |||
| rs528778 | BRN | 6 tissues (including BRST) | BRST,BRN,SKIN | POL2 | POU5F1 | ||
| rs10905284 | ESDR,THYM,VAS | DMRT2,YY1 | AOC2 in blood monocytes |