Variant report
| Variant | esv3485229 |
|---|---|
| Chromosome Location | chr12:30478269-30480995 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs561187379 | chr12:30480606-30480607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs528352686 | chr12:30480631-30480632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs560915282 | chr12:30480645-30480646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs113651913 | chr12:30480670-30480671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529671378 | chr12:30480678-30480679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs549591990 | chr12:30480681-30480682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs11050821 | chr12:30480703-30480704 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs369814410 | chr12:30480741-30480742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs115550115 | chr12:30480746-30480747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs546998851 | chr12:30480768-30480769 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs566776820 | chr12:30480829-30480830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs534218952 | chr12:30480839-30480840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs373585405 | chr12:30480876-30480877 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs11050822 | chr12:30480882-30480883 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs374364797 | chr12:30480886-30480887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs79415637 | chr12:30480945-30480946 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs538453966 | chr12:30480972-30480973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs556348047 | chr12:30480986-30480987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30480600-30482800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
