Variant report
| Variant | esv3442071 |
|---|---|
| Chromosome Location | chr14:84283589-84283664 |
| 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 | chr14:84282789..84284705-chr14:84293258..84295576,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:8 , 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 | rs562829092 | chr14:84283595-84283596 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs368627627 | chr14:84283600-84283601 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs533471714 | chr14:84283601-84283602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs374154756 | chr14:84283612-84283613 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs72697171 | chr14:84283623-84283624 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs554979275 | chr14:84283626-84283627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs573621389 | chr14:84283652-84283653 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs192894464 | chr14:84283658-84283659 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Esophageal cancer | 21851588 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:84280600-84284200 | Enhancers | Hela-S3 | cervix |
| 2 | chr14:84283000-84283600 | Enhancers | Stomach Mucosa | stomach |
| 3 | chr14:84283400-84283600 | Flanking Active TSS | HUVEC | blood vessel |
| 4 | chr14:84283600-84284000 | Enhancers | HUVEC | blood vessel |
