Variant report
| Variant | esv2240026 |
|---|---|
| Chromosome Location | chr14:71320812-71321443 |
| 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 | rs529209722 | chr14:71320832-71320833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs34553694 | chr14:71320920-71320921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs529436952 | chr14:71320976-71320977 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs200816352 | chr14:71320979-71320980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs540113735 | chr14:71321006-71321007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201494453 | chr14:71321123-71321124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs540992962 | chr14:71321226-71321227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs559580574 | chr14:71321245-71321246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs200661958 | chr14:71321249-71321250 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201391397 | chr14:71321250-71321251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs199756079 | chr14:71321252-71321253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200878708 | chr14:71321253-71321254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs565004931 | chr14:71321270-71321271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs558984189 | chr14:71321274-71321275 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs552600031 | chr14:71321302-71321303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs570969306 | chr14:71321303-71321304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs373095942 | chr14:71321307-71321308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs146410530 | chr14:71321337-71321338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs140790292 | chr14:71321376-71321377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs532352426 | chr14:71321379-71321380 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs181052788 | chr14:71321406-71321407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| 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 |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Heart disease | 21282601 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:71310200-71323000 | Weak transcription | HSMMtube | muscle |
