Variant report
| Variant | esv3427340 |
|---|---|
| Chromosome Location | chr12:30649095-30649444 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:30646656..30649637-chr12:30912418..30914854,2 | K562 | blood: |
| 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 | rs57800469 | chr12:30649137-30649138 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs59540862 | chr12:30649150-30649151 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs74938794 | chr12:30649175-30649176 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs369262211 | chr12:30649177-30649178 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs530314296 | chr12:30649184-30649185 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs548440094 | chr12:30649190-30649191 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs56653869 | chr12:30649191-30649192 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs397944256 | chr12:30649198-30649199 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs59971700 | chr12:30649227-30649228 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs113397366 | chr12:30649230-30649231 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs368701978 | chr12:30649247-30649248 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs58828426 | chr12:30649321-30649322 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs550103198 | chr12:30649352-30649353 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs538560128 | chr12:30649362-30649363 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs377161727 | chr12:30649385-30649386 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs184510261 | chr12:30649397-30649398 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs553880730 | chr12:30649414-30649415 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs142379809 | chr12:30649430-30649431 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs57133020 | chr12:30649435-30649436 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs145955368 | chr12:30649444-30649445 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30648800-30653600 | Strong transcription | Liver | Liver |
