Variant report
| Variant | esv18768 |
|---|---|
| Chromosome Location | chr12:30330755-30338534 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs114569781 | chr12:30332002-30332003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs537592558 | chr12:30332022-30332023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs149164853 | chr12:30332114-30332115 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs191620252 | chr12:30332155-30332156 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs181296152 | chr12:30332178-30332179 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs1385561 | chr12:30332184-30332185 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs573479735 | chr12:30332192-30332193 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs538509036 | chr12:30332261-30332262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs562072644 | chr12:30332286-30332287 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs2200413 | chr12:30332297-30332298 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs544762462 | chr12:30332306-30332307 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs76187943 | chr12:30332325-30332326 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs376418202 | chr12:30332352-30332353 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs533186920 | chr12:30332354-30332355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs551300632 | chr12:30332361-30332362 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs373575278 | chr12:30335800-30335801 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs545928703 | chr12:30335832-30335833 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs564001631 | chr12:30335885-30335886 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs577397919 | chr12:30335903-30335904 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs541239724 | chr12:30335948-30335949 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Seminomas | 18059402 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Cancer | 21129771 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30332000-30332400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 2 | chr12:30335800-30336000 | ZNF genes & repeats | Aorta | Aorta |
