Variant report
| Variant | esv3393892 |
|---|---|
| Chromosome Location | chr12:30508149-30508654 |
| 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 | chr12:30507863..30511356-chr12:30514045..30517303,4 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs371042294 | chr12:30508188-30508189 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs1588008 | chr12:30508231-30508232 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs75715553 | chr12:30508242-30508243 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs535781988 | chr12:30508282-30508283 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs354125 | chr12:30508321-30508322 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs575513985 | chr12:30508328-30508329 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs545874747 | chr12:30508333-30508334 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs557559774 | chr12:30508335-30508336 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs138453818 | chr12:30508351-30508352 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs368817894 | chr12:30508385-30508386 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs374874544 | chr12:30508392-30508393 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs561760943 | chr12:30508405-30508406 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs73077754 | chr12:30508431-30508432 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs542136498 | chr12:30508487-30508488 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs354124 | chr12:30508496-30508497 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs77001077 | chr12:30508513-30508514 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs552775760 | chr12:30508522-30508523 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs374207008 | chr12:30508634-30508635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| 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 |
| 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 | chr12:30501400-30510800 | Weak transcription | Fetal Heart | heart |
| 2 | chr12:30508200-30508600 | Enhancers | Placenta | Placenta |
