Variant report
| Variant | esv3407302 |
|---|---|
| Chromosome Location | chr14:36895408-36895991 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs546673269 | chr14:36895424-36895425 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs74044298 | chr14:36895453-36895454 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs190443453 | chr14:36895523-36895524 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs560468250 | chr14:36895527-36895528 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529170057 | chr14:36895588-36895589 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs542282243 | chr14:36895607-36895608 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs566884380 | chr14:36895667-36895668 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs78259077 | chr14:36895738-36895739 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs551450197 | chr14:36895745-36895746 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs150834549 | chr14:36895757-36895758 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs571552108 | chr14:36895787-36895788 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs56094161 | chr14:36895788-36895789 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs147788105 | chr14:36895798-36895799 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs567633606 | chr14:36895848-36895849 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs56333038 | chr14:36895931-36895932 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs185461697 | chr14:36895967-36895968 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Cancer | 21129771 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 21298110 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 20031968 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:36890000-36899400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr14:36893000-36898800 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 3 | chr14:36893000-36899000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr14:36893000-36899400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 5 | chr14:36893800-36895600 | Bivalent Enhancer | Brain Germinal Matrix | brain |
| 6 | chr14:36894200-36899200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 7 | chr14:36895400-36896600 | Enhancers | Skeletal Muscle Male | skeletal muscle |
| 8 | chr14:36895400-36896800 | Enhancers | Skeletal Muscle Female | skeletal muscle |
