Variant report
| Variant | esv3509367 |
|---|---|
| Chromosome Location | chr12:29161584-29164965 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs538045111 | chr12:29161624-29161625 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs569203024 | chr12:29161675-29161676 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs540108615 | chr12:29161696-29161697 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs117588020 | chr12:29161741-29161742 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs573601001 | chr12:29161747-29161748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs540783404 | chr12:29161769-29161770 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs556002393 | chr12:29161799-29161800 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs150932959 | chr12:29161819-29161820 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs75419024 | chr12:29161866-29161867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs562481111 | chr12:29161915-29161916 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs185072526 | chr12:29161925-29161926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs190121409 | chr12:29161952-29161953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs560161468 | chr12:29161968-29161969 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs551787285 | chr12:29162037-29162038 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs574720678 | chr12:29162129-29162130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs548726808 | chr12:29162163-29162164 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs1122177 | chr12:29162180-29162181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs34151209 | chr12:29162260-29162261 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs181762682 | chr12:29162275-29162276 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs550828441 | chr12:29162331-29162332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs1122176 | chr12:29162354-29162355 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:62)
| 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 |
| Acute lymphoblastic leukemia | 21248843 | 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 promyelocytic leukemia | 19109227 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Autism | 22102821 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21364760 | 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 |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29161400-29162400 | Enhancers | HMEC | breast |
| 2 | chr12:29161400-29162400 | Enhancers | NHEK | skin |
| 3 | chr12:29161600-29162400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr12:29161600-29162400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 5 | chr12:29161800-29162400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
