Table 4.
Three significant (FDR ≤ 0·05) tissue-specific trans-interactions were identified between eQTL SNPs within the fine-mapped IGF2BP2 region on chromosome and three genes on different chromosomes.
| eQTL SNP | Gene | GTEx eQTL | q-value | Cell line* | |||
|---|---|---|---|---|---|---|---|
| Name | Chr | Start (bp) | Tissue¥ | p-value (E-05) | |||
| rs13100823 | RBM47 | 4 | 40,425,272 | Whole_Blood | 1.68 | 0.049 | HUVEC |
| rs11705729 | KIAA1430 | 4 | 186,080,819 | Hypothalamus | 1.18 | 0.036 | NHEK |
| rs11927381 | DIS3L2 | 2 | 232,825,955 | Lung | 1.08 | 0.034 | NHEK |
Thirty-three out of the 36 fine-mapped SNPs within the IGF2BP2 region were identified as significant cis-acting eQTLs within the thyroid tissue. Trans eQTL SNPs were defined as occurring between loci > 1Mb apart, or on different chromosomes, with a FDR ≤ 0.05.
*
Cell line in which the SNP-gene interaction was captured.
¥
Tissue the eQTL was identified in.