Table 1.
Two representative, significant creQTL associations.
| creQTL 1 | |||||
|---|---|---|---|---|---|
| SNP Annotation | |||||
| Locus | dbSNP | Location (bp) | Position | Gene Symbol | Gene Title |
| chr13q12.3-q13 | rs9315220 | 304602 | upstream | RFC3 | replication factor C (activator 1) 3, 38 kDa |
| chr13q12-q13 | rs9315220 | 227702 | upstream | STARD13 | StAR-related lipid transfer (START) domain containing 13 |
| Gene Cluster Annotation | |||||
| Locus | Entrez ID | qcreQTL | peQTL | Gene Symbol | Gene Title |
| chr1p31.1 | 10561 | 1.13 × 10-4 | 0.21 | IFI44 | interferon-induced protein 44 |
| chr1p31.1 | 10964 | 0.28 | IFI44L | interferon-induced protein 44-like | |
| chr10q23-q25 | 3433 | 0.21 | IFIT2 | interferon-induced protein with tetratricopeptide repeats 2 | |
| chr10q24 | 3437 | 0.49 | IFIT3 | interferon-induced protein with tetratricopeptide repeats 3 | |
| chr10q25-q26 | 3434 | 0.19 | IFIT1 | interferon-induced protein with tetratricopeptide repeats 1 | |
| chr12q24.1 | 4938 | 0.52 | OAS1 | 2',5'-oligoadenylate synthetase 1, 40/46 kDa | |
| chr21q22.3 | 4599 | 0.56 | MX1 | myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) | |
| creQTL 2 | |||||
| SNP Annotation | |||||
| Locus | dbSNP | Location (bp) | Position | Gene Symbol | Gene Title |
| chr1p31.1 | rs2296697 | 0 | intron | LPHN2 | latrophilin 2 |
| Gene Cluster Annotation | |||||
| Locus | Entrez ID | qcreQTL | peQTL | Gene Symbol | Gene Title |
| chr2p25 | 6664 | 5.40 × 10-4 | 0.92 | SOX11 | SRY (sex determining region Y)-box 11 |
| chr3p14.3 | 57408 | 0.38 | LRTM1 | leucine-rich repeats and transmembrane domains 1 | |
| chr11q22.3 | 4317 | 0.10 | MMP8 | matrix metallopeptidase 8 (neutrophil collagenase) | |
| chr14q11.2 | 9362 | 0.38 | CPNE6 | copine VI (neuronal) | |
| chr21q22.3 | 54058 | 0.64 | C21orf58 | chromosome 21 open reading frame 58 | |
| NA | NA | 0.35 | NA | NA | |
For each of the two creQTLs shown in this table (labeled 'creQTL 1' and 'creQTL 2'), the associated SNP (labeled 'SNP Annotation') is first shown with annotation for the nearest coding genes in cis. Beneath the SNP annotation is annotation for the significantly associated, co-regulated gene cluster (labeled 'Gene Cluster Annotation'). These two significant associations correspond to the two loci shown in Figure 3. 'Position' indicates the relative location of the SNP relative to the nearest coding gene; 'Location (bp)' indicates the physical distance, in base pairs, between the SNP and the nearest coding genes; peQTL indicates unadjusted significance of standard eQTL analysis.