Variant report
| Variant | esv3499483 |
|---|---|
| Chromosome Location | chr14:47249569-47253952 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs563244057 | chr14:47250202-47250203 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs140374423 | chr14:47250218-47250219 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs576445317 | chr14:47250242-47250243 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs190940427 | chr14:47250249-47250250 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs527845380 | chr14:47250257-47250258 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs181227008 | chr14:47250269-47250270 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73247028 | chr14:47250270-47250271 | ZNF genes & repeats Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs538282554 | chr14:47250277-47250278 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs185804188 | chr14:47250303-47250304 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs568375990 | chr14:47250321-47250322 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs371613148 | chr14:47250330-47250331 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs73247029 | chr14:47250345-47250346 | ZNF genes & repeats Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs115647491 | chr14:47250358-47250359 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs572288789 | chr14:47250367-47250368 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs145470127 | chr14:47250385-47250386 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs557837838 | chr14:47250410-47250411 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs137994129 | chr14:47250416-47250417 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs75196930 | chr14:47250474-47250475 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs561504550 | chr14:47250516-47250517 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs573272416 | chr14:47250551-47250552 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs140987895 | chr14:47250581-47250582 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| 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 |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 21785460 | 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 |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 19907438 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:47250200-47250600 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr14:47250200-47250600 | ZNF genes & repeats | Liver | Liver |
| 3 | chr14:47250200-47250600 | Active TSS | Gastric | stomach |
