| Gene Symbol | ITIH1 |
|---|---|
| Entrez Id | 3697 |
| Position | chr3:52811608..52826077 |
| Description | inter-alpha-trypsin inhibitor heavy chain 1 |
| Gene type | protein-coding |
| SNP | Position | Alelle | Gene | Annotation | Info | Or | Se | P-value | eQTL | Score* |
|---|---|---|---|---|---|---|---|---|---|---|
| rs1075653 | 3:52825528 | T/C | ITIH1 | intron | 0.994 | 1.05792 | 0.0110 | 2.991E-7 | 1f | |
| rs1076425 | 3:52825462 | A/G | ITIH1 | intron | 0.994 | 1.05876 | 0.0110 | 1.987E-7 | 1f | |
| rs111477914 | 3:52821666 | T/C | ITIH1 | intron | 0.743 | 1.01542 | 0.0490 | 0.7546 | 5 | |
| rs13100826 | 3:52810845 | T/C | ITIH1 | near-gene-5 | 0.749 | 0.96377 | 0.0250 | 0.1389 | 6 | |
| rs138880491 | 3:52813701 | C/G | ITIH1 | intron,near-gene-5 | 0.722 | 1.02737 | 0.0330 | 0.4129 | - | |
| rs145225292 | 3:52818986 | T/C | ITIH1 | intron | 0.750 | 1.09944 | 0.0543 | 0.08078 | - | |
| rs145919095 | 3:52819416 | A/G | ITIH1 | intron | 0.711 | 1.10098 | 0.0592 | 0.1042 | - | |
| rs2071506 | 3:52826276 | T/C | ITIH1 | near-gene-3 | 0.994 | 1.05696 | 0.0110 | 4.622E-7 | 1f | |
| rs2098167 | 3:52810933 | A/T | ITIH1 | near-gene-5 | 0.919 | 1.05559 | 0.0115 | 2.424E-6 | 6 | |
| rs2239549 | 3:52823126 | A/G | ITIH1 | intron | 0.995 | 0.94497 | 0.0109 | 1.877E-7 | 1f | |
| rs2239550 | 3:52822509 | C/G | ITIH1 | intron | 0.993 | 0.94582 | 0.0109 | 2.931E-7 | 5 | |
| rs2239551 | 3:52818579 | A/G | ITIH1 | intron | 0.993 | 0.94592 | 0.0109 | 3.125E-7 | 6 | |
| rs2268023 | 3:52819327 | A/T | ITIH1 | intron | 0.966 | 0.94961 | 0.0109 | 2.135E-6 | 5 | |
| rs2270197 | 3:52824095 | T/G | ITIH1 | intron | 0.994 | 1.05940 | 0.0110 | 1.569E-7 | 1f | |
| rs2284350 | 3:52822856 | T/C | ITIH1 | intron | 0.975 | 1.05707 | 0.0110 | 4.466E-7 | 6 | |
| rs2284351 | 3:52822789 | T/C | ITIH1 | intron | 0.921 | 1.05243 | 0.0115 | 8.565E-6 | 7 | |
| rs2286798 | 3:52821177 | A/C | ITIH1 | intron | 0.991 | 1.05887 | 0.0110 | 1.773E-7 | 1f | |
| rs2300149 | 3:52822921 | T/C | ITIH1 | intron | 0.995 | 0.94582 | 0.0109 | 2.8E-7 | 6 | |
| rs2302417 | 3:52814256 | A/T | ITIH1 | intron | 0.971 | 0.93548 | 0.0107 | 4.471E-10 | 6 | |
| rs2535630 | 3:52819883 | T/G | ITIH1 | intron | 0.662 | 1.08383 | 0.0445 | 0.07079 | 6 | |
| rs2710322 | 3:52817593 | T/C | ITIH1 | intron | 0.961 | 1.01511 | 0.0159 | 0.3446 | 5 | |
| rs2710323 | 3:52815905 | T/C | ITIH1 | intron | 0.987 | 1.07122 | 0.0106 | 9.124E-11 | 1f | |
| rs36012032 | 3:52814709 | A/C | ITIH1 | intron | 0.967 | 0.95218 | 0.0196 | 0.01225 | 7 | |
| rs4687551 | 3:52823448 | T/C | ITIH1 | intron | 0.990 | 1.05823 | 0.0110 | 2.66E-7 | 1f | |
| rs62255400 | 3:52812231 | T/C | ITIH1 | intron,near-gene-5 | 0.936 | 0.97502 | 0.0187 | 0.1775 | 4 | |
| rs6778329 | 3:52824610 | A/G | ITIH1 | intron | 0.994 | 0.94563 | 0.0110 | 3.667E-7 | 1f | |
| rs678 | 3:52820981 | A/T | ITIH1 | missense | 0.993 | 1.05908 | 0.0110 | 1.613E-7 | 1f | |
| rs75097760 | 3:52814643 | T/C | ITIH1 | intron | 0.894 | 0.99312 | 0.0423 | 0.8699 | 7 | |
| rs76203017 | 3:52814255 | A/T | ITIH1 | intron | 0.939 | 0.98236 | 0.0191 | 0.3503 | 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!