Variant report
| Variant | esv3530430 |
|---|---|
| Chromosome Location | chr14:97212051-97212126 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:97211622..97213197-chr14:97215486..97218319,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12184956 | chr14:97212051-97212052 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs538730055 | chr14:97212053-97212054 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs557242886 | chr14:97212078-97212079 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs77785455 | chr14:97212081-97212082 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs536585619 | chr14:97212082-97212083 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs374180892 | chr14:97212092-97212093 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs117129588 | chr14:97212097-97212098 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs117432145 | chr14:97212104-97212105 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs78586873 | chr14:97212118-97212119 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs71419295 | chr14:97212125-97212126 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| 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 |
| 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Cancer | 20164920 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Acute lymphoblastic leukemia | 20139093 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| small cell lung cancer | 17426248 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Non-small cell lung cancer | 18320023 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:97208800-97213200 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr14:97209200-97213000 | Weak transcription | Fetal Brain Female | brain |
| 3 | chr14:97212000-97213400 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
