Table 5. Putatively functional SNPs imputed from the ATM locus associated with the risk of NHL.
SNP | r2 with tSNP* | OR (95% CI) | P | phastCons 44-way | TFBS | H3K4me1 chromatin mark | DNase I Hypersensitivity cluster | UTR | Transcribed in GM12878 |
rs228594 | 0.991 | 0.71 (0.60–0.84) | 4.85E-05 | - | JunD, FOSL2 | - | Yes | - | Yes |
rs228599 | 0.991 | 0.71 (0.60–0.84) | 4.85E-05 | - | c-Jun | Yes | - | - | Yes |
rs227070 | 0.997 | 0.71 (0.61–0.84) | 7.32E-05 | - | - | - | Yes | - | - |
rs228595 | 1 | 1.16 (1.05–1.29) | 0.003922 | - | - | Yes | - | - | Yes |
rs672655 | 0.994 | 0.89 (0.80–0.98) | 0.02264 | 243 | - | - | - | - | Yes |
rs228596 | 0.994 | 0.89 (0.80–0.98) | 0.02295 | - | - | Yes | - | - | Yes |
rs189037 | 0.994 | 0.89 (0.80–0.98) | 0.02296 | - | HEY1, TAF1, IRF4, PAX5-C20, POU2F2 | - | - | 5′ | Yes |
rs662578 | 0.994 | 0.90 (0.81–0.99) | 0.03296 | - | - | - | Yes | - | Yes |
rs228590 | 0.994 | 0.90 (0.81–0.99) | 0.03476 | - | PAX5-C20 | Yes | Yes | - | Yes |
rs228598 | 0.994 | 0.90 (0.81–0.99) | 0.03476 | - | c-Jun | Yes | Yes | - | Yes |
rs228591 | 0.994 | 0.90 (0.81–0.99) | 0.03476 | - | - | Yes | Yes | - | Yes |
rs625120 | 0.994 | 0.90 (0.81–0.99) | 0.03476 | - | - | Yes | - | - | Yes |
rs228597 | 0.994 | 0.90 (0.81–0.99) | 0.03476 | - | - | Yes | - | - | Yes |
rs228592 | 0.994 | 0.90 (0.81–0.99) | 0.03476 | - | - | - | Yes | - | Yes |
rs582157 | 0.994 | 0.90 (0.81–0.99) | 0.03476 | - | - | Yes | - | - | Yes |
rs227072 | 0.998 | 0.90 (0.81–1.00) | 0.04007 | - | JunD | - | - | - | Yes |
rs425061 | 0.998 | 0.90 (0.81–1.00) | 0.04007 | 272 | - | - | - | - | Yes |
rs227092 | 0.998 | 0.90 (0.81–1.00) | 0.04007 | - | - | - | - | 3′ | Yes |
rs227091 | 0.998 | 0.90 (0.81–1.00) | 0.04007 | - | - | - | - | 3′ | Yes |
rs4585 | 0.998 | 0.90 (0.81–1.00) | 0.04007 | - | - | - | - | 3′ | Yes |
OR = odds ratio; CI = confidence interval; TFBS = transcription factor binding site; UTR = untranslated region.
*Correlated tSNP for rs228595 is rs611646; all other SNPs are correlated with the tSNP rs419716.