Variant report
| Variant | esv3507680 |
|---|---|
| Chromosome Location | chr14:79953817-79954213 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs528081873 | chr14:79953839-79953840 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530056412 | chr14:79953870-79953871 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs541277850 | chr14:79953943-79953944 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs149525343 | chr14:79953949-79953950 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs377018307 | chr14:79953952-79953953 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs533487928 | chr14:79953991-79953992 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs11850829 | chr14:79954014-79954015 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs570260822 | chr14:79954033-79954034 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs372627379 | chr14:79954051-79954052 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs113518705 | chr14:79954065-79954066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs559266598 | chr14:79954129-79954130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs143207794 | chr14:79954169-79954170 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs549472561 | chr14:79954194-79954195 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs577673018 | chr14:79954211-79954212 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Glioblastoma multiforme | 21922591 | 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 | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:79950600-79954000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr14:79953600-79954600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 3 | chr14:79953600-79954800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 4 | chr14:79953800-79954400 | Enhancers | Pancreas | Pancrea |
| 5 | chr14:79954000-79954400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 6 | chr14:79954000-79954600 | Enhancers | Stomach Smooth Muscle | stomach |
