Variant report
| Variant | esv3363768 |
|---|---|
| Chromosome Location | chr14:38290815-38291146 |
| 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:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs570862645 | chr14:38290826-38290827 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs140734556 | chr14:38290834-38290835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs4611368 | chr14:38290875-38290876 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs566823267 | chr14:38290880-38290881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs188537042 | chr14:38290936-38290937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201211311 | chr14:38290988-38290989 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs35078384 | chr14:38291002-38291003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs555955182 | chr14:38291031-38291032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs569575494 | chr14:38291071-38291072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs145902833 | chr14:38291129-38291130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs558158901 | chr14:38291132-38291133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | 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 |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 21298110 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Prostate cancer | 21147910 | CNVD |
| Thyroid cancer | 19470727 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:38280400-38295600 | Weak transcription | Liver | Liver |
| 2 | chr14:38288400-38294200 | Weak transcription | NH-A | brain |
| 3 | chr14:38289000-38294200 | Weak transcription | Colon Smooth Muscle | Colon |
| 4 | chr14:38289200-38293800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 5 | chr14:38289400-38294000 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 6 | chr14:38289800-38294000 | Weak transcription | HepG2 | liver |
