Variant report
| Variant | esv3310796 |
|---|---|
| Chromosome Location | chr14:43307993-43308898 |
| 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 | chr14:43301377..43304001-chr14:43306700..43308572,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:21 , 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 | rs537800078 | chr14:43308031-43308032 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs556415332 | chr14:43308042-43308043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs145460574 | chr14:43308059-43308060 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs55901135 | chr14:43308061-43308062 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs553772669 | chr14:43308083-43308084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs572184105 | chr14:43308110-43308111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs545870650 | chr14:43308127-43308128 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs144048908 | chr14:43308130-43308131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs369069700 | chr14:43308131-43308132 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs576575212 | chr14:43308145-43308146 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs146444728 | chr14:43308150-43308151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs557891788 | chr14:43308178-43308179 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs77022701 | chr14:43308198-43308199 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs115490477 | chr14:43308220-43308221 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs541044496 | chr14:43308246-43308247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs55634603 | chr14:43308277-43308278 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs550824599 | chr14:43308292-43308293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs533255067 | chr14:43308317-43308318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs551461068 | chr14:43308330-43308331 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs114858691 | chr14:43308332-43308333 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs533789239 | chr14:43308389-43308390 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| Colorectal cancer | 16774939 | 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 |
| Endometrioid adenocarcinoma | 16974079 | 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Thyroid cancer | 19470727 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:43308000-43308400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr14:43308200-43308400 | Enhancers | Pancreas | Pancrea |
