Variant report
| Variant | esv3408568 |
|---|---|
| Chromosome Location | chr14:43450152-43454450 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr14:43450264-43450500 | HepG2 | liver: | n/a | chr14:43450398-43450407 chr14:43450397-43450408 |
| 2 | CEBPB | chr14:43453208-43453525 | HepG2 | liver: | n/a | chr14:43453354-43453365 chr14:43453356-43453367 |
| 3 | CEBPB | chr14:43453278-43453537 | IMR90 | lung: | n/a | chr14:43453354-43453365 chr14:43453356-43453367 |
| 4 | MYC | chr14:43451240-43451258 | K562 | blood: | n/a | n/a |
| 5 | STAT3 | chr14:43451169-43451203 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000259047 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs576373300 | chr14:43453410-43453411 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs565728663 | chr14:43453416-43453417 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs546017159 | chr14:43453430-43453431 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs558223067 | chr14:43453431-43453432 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs145508733 | chr14:43453440-43453441 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs544425765 | chr14:43453462-43453463 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs374543785 | chr14:43453486-43453487 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs6145321 | chr14:43453499-43453500 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs562636278 | chr14:43453527-43453528 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs35788538 | chr14:43453529-43453530 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs150455639 | chr14:43453531-43453532 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs374404157 | chr14:43453533-43453534 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| 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 |
| Renal cell carcinoma | 18194544 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 20967226 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
