Table 2.
Association of putatively functional SNPs at the 17q25.1 locus by ethnic group
| Chr | Position (hg19) |
SNP | Putative Function & Location |
RA | LD with rs7214628 (EUR) |
p-value EUR |
p-value AFR |
p-value HIS |
p-value ASN |
RAF EUR |
RAF AFR |
RAF HIS |
RAF ASN |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 17 | 73827205 | rs1135688 | Missense (K867E, UNC13D) | C | 0.32 | + 1.7E-08 | + 0.60 | + 0.22 | − 0.12 | 0.31 | 0.81 | 0.50 | 0.37 |
| 17 | 73839366 | rs3744009 | Regulatory (RDB=3a) (intronic, UNC13D) | T | 0.29 | + 1.8E-10 | − 0.89 | + 0.22 | − 0.23 | 0.26 | 0.44 | 0.31 | 0.15 |
| 17 | 73841285 | rs2410859 | Regulatory (RDB=2b) (5'-UTR UNC13D) | C | 0.44 | + 1.9E-11 | + 0.48 | + 0.16 | − 0.20 | 0.32 | 0.82 | 0.51 | 0.38 |
| 17 | 73841702 | rs9900122 | Regulatory (RDB=2b) (3’-UTR, WBP2) | C | 0.44 | + 1.5E-11 | − 0.98 | + 0.19 | − 0.21 | 0.32 | 0.76 | 0.48 | 0.38 |
| 17 | 73844748 | rs2290771 | Regulatory (RDB=2b) (intronic, WBP2) | G | 0.46 | + 8.1E-11 | + 0.39 | + 0.17 | − 0.17 | 0.32 | 0.82 | 0.50 | 0.16 |
| 17 | 73847613 | rs936393 | Regulatory (TRIM47 eQTL; RDB=1f) (intronic, WBP2) | G | 0.86 | + 2.7E-18 | + 0.74 | + 0.96 | − 0.46 | 0.19 | 0.26 | 0.21 | 0.14 |
| 17 | 73851113 | rs55868394 | Regulatory (RDB=2b) (intronic, WBP2) | A | 0.63 | + 1.5E-13 | − 0.87 | + 0.22 | + 0.34 | 0.13 | 0.03 | 0.08 | 0.09 |
| 17 | 73852008 | rs936394 | Regulatory (RDB=2b) (5’-UTR, WBP2) | A | 0.89 | + 6.0E-18 | + 0.62 | + 0.65 | − 0.41 | 0.19 | 0.26 | 0.21 | 0.14 |
| 17 | 73865657 | rs9894383 | Regulatory (TRIM47 eQTL; RDB=2b) (4.6kb 3' of TRIM47) | G | 0.91 | + 7.6E-18 | + 0.18 | + 0.34 | − 0.30 | 0.19 | 0.59 | 0.35 | 0.14 |
| 17 | 73871467 | rs3744017 | Regulatory (TRIM47 eQTL; RDB=1f) (intronic, TRIM47) | A | 0.93 | + 6.7E-18 | + 0.09 | + 0.16 | − 0.27 | 0.19 | 0.29 | 0.23 | 0.13 |
| 17 | 73871773 | rs3744020 | Regulatory (RDB=2a) (intronic, TRIM47) | A | 0.93 | + 4.1E-18 | + 0.10 | + 0.16 | − 0.29 | 0.19 | 0.29 | 0.22 | 0.13 |
| 17 | 73873394 | rs9908862 | Regulatory (RDB=2b), Conserved (intronic, TRIM47) | G | 0.73 | + 7.9E-16 | + 0.21 | + 0.13 | − 0.31 | 0.14 | 0.50 | 0.28 | 0.12 |
| 17 | 73874071 | rs4600514 | Missense (R187W, TRIM47) | A | 0.74 | + 6.3E-16 | + 0.20 | + 0.11 | − 0.30 | 0.14 | 0.32 | 0.21 | 0.12 |
| 17 | 73874138 | rs4072479 | Conserved, synonymous (A164A, TRIM47), regulatory (RDB=2b) | C | 0.72 | + 5.6E-15 | + 0.43 | + 0.21 | − 0.30 | 0.14 | 0.44 | 0.26 | 0.12 |
| 17 | 73885805 | rs1551619 | Regulatory (RDB=2b) (3’-UTR, TRIM65) | T | 0.74 | + 2.2E-14 | + 0.24 | + 4.4E-02 | − 0.34 | 0.23 | 0.33 | 0.27 | 0.13 |
| 17 | 73886888 | rs3760128 | Missense (L509P, TRIM65) | G | 0.46 | + 6.9E-12 | + 0.65 | + 0.12 | − 0.06 | 0.33 | 0.82 | 0.51 | 0.20 |
| 17 | 73888427 | rs7222757 | Missense (V222G, TRIM65) | C | 0.56 | + 1.3E-14 | − 0.95 | + 0.34 | − 0.07 | 0.28 | 0.71 | 0.45 | 0.20 |
| 17 | 73922941 | rs2305913 | Missense (R151G, FBF1) | C | 0.41 | + 4.7E-11 | + 0.92 | + 0.13 | − 2.1E-02 | 0.34 | 0.76 | 0.50 | 0.19 |
| 17 | 73926121 | rs1135889 | Missense (G65V, FBF1) | A | 0.29 | + 9.5E-11 | − 0.79 | + 0.16 | − 4.9E-03 | 0.23 | 0.19 | 0.18 | 0.13 |
| 17 | 73949540 | rs1135640 | Missense (I312M, ACOX1) | G | 0.41 | + 3.3E-10 | + 0.88 | − 0.17 | −7.0E-03 | 0.35 | 0.67 | 0.49 | 0.19 |
Abbreviations: SNP = single nucleotide polymorphism, Chr = chromosome, RA = risk allele, LD = linkage disequilibrium, RAF = risk allele frequency, EUR: European descent, AFR: African-Americans, HIS: Hispanic descent, ASN: Asian descent