Table 3. Detailed annotation information of the SLE-associated single nucleotide polymorphism rs2638272 and its proxies.
| rs2638272 and proxies (r2 in ASN) |
Annotated gene | RegulomeDB score |
rSNPBase | cis-eQTL | |||||
|---|---|---|---|---|---|---|---|---|---|
| rSNP | Proxy/Distal regulation | GTEx pilot analysis (P value) |
Blood eQTL (P value) |
||||||
| Cells Transformed Fibroblasts | Esophagus Mucosa | Muscle Skeletal | Whole Blood | Whole Blood | |||||
| rs1491940 (0.82) | LRRK2 | 3a | no | no | 8.40E-06 | 1.80E-07 | 5.90E-06 | ||
| rs2638272 (1) | LRRK2 | 3a | no | no | 5.01E-08 | ||||
| rs1491941 (0.99) | LRRK2 | 3a | yes | yes | 4.32E-07 | 5.68E-08 | |||
| rs2708420 (0.94) | LRRK2 | 4 | no | no | 6.26E-08 | ||||
| rs2638229 (0.84) | LRRK2 | 4 | no | no | 8.28E-06 | 1.93E-07 | 6.43E-06 | ||
| rs2404577 (0.80) | LRRK2 | 5 | no | no | |||||
| rs2708421 (0.81) | LRRK2 | 5 | no | no | 4.80E-06 | 2.78E-06 | 1.54E-06 | 8.04E-09 | 2.56E-10 |
| rs1491932 (0.97) | LRRK2 | 5 | no | no | 6.28E-08 | 7.37E-06 | |||
| rs2279535 (0.98) | LRRK2 | 5 | no | no | 1.03E-07 | 7.82E-06 | |||
| rs2638230 (0.98) | LRRK2 | 5 | no | no | 6.82E-08 | 7.82E-06 | |||
| rs11612806 (0.80) | LRRK2 | 6 | yes | yes | |||||
| rs7969112 (0.80) | LRRK2 | 6 | yes | yes | |||||
| rs2708418 (0.93) | LRRK2 | 6 | no | no | 1.07E-08 | ||||
| rs2708423 (0.88) | LRRK2 | 6 | no | no | 1.54E-07 | ||||
| rs2708424 (0.95) | LRRK2 | 6 | no | no | 1.04E-07 | ||||
| rs2638233 (0.95) | LRRK2 | 6 | no | no | 6.89E-08 | ||||
| rs2723259 (0.96) | LRRK2 | 6 | no | no | 6.28E-08 | 7.33E-06 | |||
| rs2263419 (0.94) | LRRK2 | 6 | no | no | 7.29E-08 | ||||
| rs2263420 (0.98) | LRRK2 | 6 | no | no | 8.95E-08 | 3.64E-07 | |||
| rs2201141 (0.98) | LRRK2 | 6 | no | no | 1.08E-07 | ||||
| rs7970326 (0.98) | LRRK2 | 6 | no | no | 1.27E-06 | 9.04E-06 | |||
| rs2708419* | LRRK2 | No Data | no | no | - | - | - | - | |
Abbreviations: 1. ASN: Asian; eQTL: expression quantitative locus; GTEx: The genotype-tissue expression; rSNP: regulatory single nucleotide polymorphism; SLE: systemic lupus erythematosus; SNP: single nucleotide polymorphism.
2. GTEx pilot analysi (PMID: 25954001), Blood eQTL (PMID: 24013639).