Table II.
Characteristics of four variants with significant multiomics scores that were in a locus near BIRC3.
| rsID | Position | Ref | Alt | Alternative allele frequency (EUR/cosmopolitan) | eQTL Tissue | GSK ICS Response Associations | GR-Binding Site Characteristics | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Effect size | P-value | Peak start to end | Log2 Fold change | Q-value | Tissue | Distance to TSS | GRE motif start to end | ||||||
| rs11225201 | 102301261 | T | G | 0.330/0.341 | L,M,B | −0.043 | 1.16×10−4 | 102301030–102301522 | 5.56 | 4.70×10−8 | BEAS-2B | −15,928 | 102301253–102301271 |
| 102301132–102301325 | 3.68 | 2.85×10−3 | A549 | −16,125 | |||||||||
| rs2852881 | 102306126 | C | T | 0.314/0.283 | L,B | −0.045 | 6.82×10−5 | 102305878–102307125 | 4.49 | 1.64×10−67 | BEAS-2B | −10,325 | - |
| rs2846858 | 102306442 | C | T | 0.315/0.327 | L,M,B | −0.046 | 4.35×10−5 | 102306146–102306808 | 4.78 | 1.05×10−7 | ASM | −10,642 | - |
| 102305878–102307125 | 4.49 | 1.64×10−67 | BEAS-2B | −103,25 | |||||||||
| 102306154–102306657 | 6.32 | 7.05×10−31 | A549 | −107,93 | |||||||||
| rs17878708 | 102320606 | G | A | 0.330/0.291 | L,B | −0.044 | 1.36×10−4 | 102320563–102321139 | 7.11 | 3.83×10−10 | ASM | 3,113 | 102320838–102320855 |
Genomic coordinates are based on hg38 on chromosome 11.
Effect size refers to the alternative allele.
eQTLs in lung (L), whole blood (B), and skeletal muscle (M) tissues are selected.
GR-binding sites containing putative GRE motifs are reflected by presence of information in the column “GRE motif start to end”.
SNP rs11225201 is located within a putative GRE.