Variant report
| Variant | esv3378892 |
|---|---|
| Chromosome Location | chr12:29566908-29567281 |
| 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:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs139873706 | chr12:29567017-29567018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs143225688 | chr12:29567021-29567022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs10771529 | chr12:29567022-29567023 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs186413302 | chr12:29567026-29567027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs548018447 | chr12:29567054-29567055 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566131263 | chr12:29567095-29567096 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs10771530 | chr12:29567148-29567149 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs149967470 | chr12:29567207-29567208 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs539253251 | chr12:29567276-29567277 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs73276818 | chr12:29567278-29567279 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:60)
| 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 |
| 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 |
| 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 |
| Intellectual disability | 21811512 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29567000-29567200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 2 | chr12:29567200-29567800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 3 | chr12:29567200-29568600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
