Table 2.
Top scoring creQTLs at a significance threshold of q = 5.50 × 10-4.
| Locus | dbSNP | Location (bp) | Position | Gene Symbol | Gene Title | qcreQTL |
|---|---|---|---|---|---|---|
| chr6q16 | rs959186 | 125994 | downstream | RNGTT | RNA guanylyltransferase and 5'-phosphatase | 1.13 × 10-4 |
| chr13q12.3-q13 | rs9315215 | 348455 | upstream | RFC3 | replication factor C (activator 1) 3, 38 kDa | 1.13 × 10-4 |
| chr13q12-q13 | rs9315215 | 183849 | upstream | STARD13 | StAR-related lipid transfer (START) domain containing 13 | 1.13 × 10-4 |
| chrXq21.33 | rs4969656 | 695921 | upstream | DIAPH2 | diaphanous homolog 2 (Drosophila) | 1.93 × 10-4 |
| chrXq21.3-q22 | rs4969656 | 2315179 | upstream | NAP1L3 | nucleosome assembly protein 1-like 3 | 1.93 × 10-4 |
| chr3q13.1 | rs4856121 | 2246645 | upstream | ALCAM | activated leukocyte cell adhesion molecule | 1.93 × 10-4 |
| chr5q31-q32 | rs319217 | 0 | intron | PPP2R2B | protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform | 1.13 × 10-4 |
| chr1p31.1 | rs2296697 | 0 | intron | LPHN2 | latrophilin 2 | 5.40 × 10-4 |
| chr2p21 | rs222471 | 31099 | downstream | KCNG3 | potassium voltage-gated channel, subfamily G, member 3 | 4.91 × 10-4 |
| chr2p21 | rs222471 | 49701 | upstream | COX7A2L | cytochrome c oxidase subunit VIIa polypeptide 2 like | 4.91 × 10-4 |
| chr4q21 | rs1992489 | 59023 | upstream | CXCL13 | chemokine (C-X-C motif) ligand 13 | 5.19 × 10-4 |
| chr4q21.1 | rs1992489 | 282671 | downstream | CCNG2 | cyclin G2 | 5.19 × 10-4 |
| chr14q13-q21 | rs1951319 | 680177 | downstream | RPL10L | ribosomal protein L10-like | 5.48 × 10-4 |
| chr14q21.2 | rs1951319 | 717439 | upstream | C14orf106 | chromosome 14 open reading frame 106 | 5.48 × 10-4 |
| chr8p23.2 | rs1714757 | 0 | intron | CSMD1 | CUB and Sushi multiple domains 1 | 1.47 × 10-4 |
| chr16p13.12 | rs1159167 | 147599 | upstream | ERCC4 | excision repair cross-complementing rodent repair deficiency, complementation group 4 | 4.91 × 10-4 |
| chr16p13.12 | rs1159167 | 968670 | upstream | CPPED1 | calcineurin-like phosphoesterase domain containing 1 | 4.91 × 10-4 |
| chr22q12.1 | rs10483151 | 0 | intron | TTC28 | tetratricopeptide repeat domain 28 | 1.81 × 10-4 |
Associated gene clusters have been omitted for brevity and are listed in Additional File 1. 'Position' and 'Location (bp)' as for Table 1; qcreQTL' indicates FDR-adjusted significance.