Variant report
| Variant | nsv564550 |
|---|---|
| Chromosome Location | chr14:41646551-41673195 |
| 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:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs148447981 | chr14:41669608-41669609 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs529842886 | chr14:41669624-41669625 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs547664670 | chr14:41669645-41669646 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs77101571 | chr14:41669696-41669697 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs536217153 | chr14:41669728-41669729 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs74803015 | chr14:41669730-41669731 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs527448952 | chr14:41669748-41669749 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs552454997 | chr14:41669755-41669756 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs369923900 | chr14:41669767-41669768 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs147630406 | chr14:41669769-41669770 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs188703517 | chr14:41669791-41669792 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs116869753 | chr14:41669797-41669798 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs183485592 | chr14:41673026-41673027 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs528692099 | chr14:41673031-41673032 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs547146192 | chr14:41673110-41673111 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs115050914 | chr14:41673128-41673129 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs187268069 | chr14:41673141-41673142 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs550855354 | chr14:41673170-41673171 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs17111545 | chr14:41673195-41673196 | Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:60)
| 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 |
| 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 |
| Schizophrenia | 23813976 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Immune disease | 21076436 | CNVD |
| Immune disease | 21042300 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:41669600-41669800 | Bivalent Enhancer | Left Ventricle | heart |
| 2 | chr14:41673000-41673200 | Bivalent Enhancer | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
