Variant report
Variant | esv1235599 |
---|---|
Chromosome Location | chr14:34793084-34793100 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:3 , 50 per page) page:
1
No data |
No data |
No data |
No data |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs553519629 | chr14:34793085-34793086 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs147552750 | chr14:34793086-34793087 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs79549469 | chr14:34793096-34793097 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
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 |
Acute lymphoblastic leukemia | 20067559 | 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 |
Esophageal cancer | 20955586 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Lung cancer | 18438408 | CNVD |
Epilepsy | 20736978 | CNVD |
Mental retardation | 20736978 | CNVD |
speech impairment | 20736978 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21785460 | CNVD |
Breast cancer | 21045282 | CNVD |
Cancer | 21129771 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Lung cancer | 17925434 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21364760 | CNVD |
Glioma | 24330732 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164919 | CNVD |
small cell lung cancer | 20016488 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:34792600-34793200 | Enhancers | Rectal Mucosa Donor 31 | rectum |
2 | chr14:34792600-34793600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr14:34792600-34793800 | Weak transcription | HepG2 | liver |