Variant report
| Variant | esv3322199 |
|---|---|
| Chromosome Location | chr14:83291499-83292897 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs556959161 | chr14:83291517-83291518 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs568876350 | chr14:83291525-83291526 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs539483645 | chr14:83291569-83291570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs367964768 | chr14:83291581-83291582 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs558416252 | chr14:83291616-83291617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs548823988 | chr14:83291631-83291632 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs540798272 | chr14:83291649-83291650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs182668585 | chr14:83291678-83291679 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs187520920 | chr14:83291707-83291708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs577177327 | chr14:83291752-83291753 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs567653328 | chr14:83292674-83292675 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs538027111 | chr14:83292714-83292715 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs144583440 | chr14:83292723-83292724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs192443703 | chr14:83292757-83292758 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs538764120 | chr14:83292774-83292775 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs554086452 | chr14:83292780-83292781 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs560895065 | chr14:83292804-83292805 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs182058410 | chr14:83292828-83292829 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs543051106 | chr14:83292856-83292857 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs145468791 | chr14:83292857-83292858 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| 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 |
| 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 |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:83291400-83291600 | Enhancers | H9 Cell Line | embryonic stem cell |
| 2 | chr14:83291400-83291800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr14:83292600-83293000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 4 | chr14:83292600-83293200 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 5 | chr14:83292600-83293600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 6 | chr14:83292800-83293200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 7 | chr14:83292800-83295000 | Enhancers | Brain Germinal Matrix | brain |
