| Gene Symbol | HSPD1 |
|---|---|
| Entrez Id | 3329 |
| Position | chr2:198351308..198364998 |
| Description | heat shock 60kDa protein 1 (chaperonin) |
| Gene type | protein-coding |
| SNP | Position | Alelle | Gene | Annotation | Info | Or | Se | P-value | eQTL | Score* |
|---|---|---|---|---|---|---|---|---|---|---|
| rs11682567 | 2:198355153 | T/G | HSPD1 | intron | 1.000 | 1.01248 | 0.0135 | 0.3577 | 6 | |
| rs17730989 | 2:198362524 | T/C | HSPD1 | intron | 0.997 | 0.94592 | 0.0106 | 1.528E-7 | 1f | |
| rs2340689 | 2:198361058 | T/C | HSPD1 | intron | 1.000 | 0.99233 | 0.0137 | 0.5726 | 5 | |
| rs2340690 | 2:198360886 | A/G | HSPD1 | intron | 1.000 | 1.01278 | 0.0135 | 0.3473 | 5 | |
| rs2564384 | 2:198356065 | T/C | HSPD1 | intron | 0.995 | 1.05823 | 0.0106 | 9.822E-8 | 7 | |
| rs2565163 | 2:198354414 | T/C | HSPD1 | intron | 0.998 | 1.07423 | 0.0111 | 1.311E-10 | 6 | |
| rs2605041 | 2:198358785 | A/G | HSPD1 | intron | 0.644 | 0.91998 | 0.0284 | 0.003349 | 4 | |
| rs41265953 | 2:198351804 | C/G | HSPD1 | missense | 0.662 | 0.91220 | 0.0378 | 0.01502 | 7 | |
| rs41265955 | 2:198352101 | A/T | HSPD1 | intron | 0.676 | 1.05443 | 0.0306 | 0.08319 | 5 | |
| rs41265957 | 2:198352226 | C/G | HSPD1 | intron | 0.715 | 0.89494 | 0.0469 | 0.01803 | 4 | |
| rs75268808 | 2:198357775 | A/T | HSPD1 | intron | 0.690 | 0.85172 | 0.0609 | 0.008391 | 5 | |
| rs8539 | 2:198362018 | T/C | HSPD1 | coding-synon | 0.998 | 1.07304 | 0.0111 | 2.397E-10 | 6 | |
| SNP | Position | Alelle | Gene | Annotation | Info | Or | Se | P-value | eQTL | Score* |
| score | supporting data | score | supporting data |
|---|---|---|---|
| 1a | eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak | 6 | other |
| 2a | TF binding + matched TF motif + matched DNase Footprint + DNase peak | 5 | TF binding or DNase peak |
| 1b | eQTL + TF binding + any motif + DNase Footprint + DNase peak | 4 | TF binding + DNase peak |
| 2b | TF binding + any motif + DNase Footprint + DNase peak | 3b | TF binding + matched TF motif |
| 1c | eQTL + TF binding + matched TF motif + DNase peak | 1f | eQTL + TF binding / DNase peak |
| 2c | TF binding + matched TF motif + DNase peak | 3a | TF binding + any motif + DNase peak |
| 1d | eQTL + TF binding + any motif + DNase peak | 1e | eQTL + TF binding + matched TF motif |
The gene is not affected by CNV!