TABLE 3.
Genetic information and functional annotation of 4 SNPs using HaploReg v4.1 and RegulomeDB.
| HaploReg v4.1 |
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| SNP | Gene | Chr | Positiona | Allele | Functional consequence | Promoter histone marks | Enhancer histone marks | DNAse | Motifs changed | RegulomeDB Rank |
| rs6554163 | PDGFRA | 4 | 55102559 | T > A | intron | 4 tissues | 5 tissues | ESDR | BAF155, SIX5, Znf143 | 5c |
| rs6495367 | RASGRF1 | 15 | 79375347 | G > A | intron | NAb | NA | NA | SIX5 | 4d |
| rs1550870 | PTPN5 | 11 | 18751041 | C > T | synonymous | NA | IPSC, ESC, SKIN | NA | CACD_1, CACD_2, Klf4, Klf7, PU.1_disc3, Spz1_1 | 5 |
| rs11178469 | PTPRR | 12 | 71275137 | T > C | intron | NA | NA | NA | NA | 5 |
aGenomic position information is based on Genome Reference Consortium Human Build 37 (GRCh37). bNA Not available. c5: TF binding or DNase peak. d4: TF binding + DNase peak.