Variant report
| Variant | esv3389222 |
|---|---|
| Chromosome Location | chr6:145818533-145818873 |
| 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 | chr6:145817967..145818790-chr6:145955063..145955734,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:15 , 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 | rs564872575 | chr6:145818611-145818612 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs79667053 | chr6:145818632-145818633 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs77169943 | chr6:145818637-145818638 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs74471247 | chr6:145818662-145818663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs71028354 | chr6:145818663-145818664 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112552206 | chr6:145818675-145818676 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs529868153 | chr6:145818703-145818704 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs545672785 | chr6:145818726-145818727 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs73562628 | chr6:145818732-145818733 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs76639230 | chr6:145818760-145818761 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs572669424 | chr6:145818806-145818807 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs150317816 | chr6:145818861-145818862 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs117215810 | chr6:145818862-145818863 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs531685620 | chr6:145818868-145818869 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs573052183 | chr6:145818869-145818870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:75)
| Disease | PMID | Source |
|---|---|---|
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 21448237 | CNVD |
| Autism | 22495311 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 19010834 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Intracranial tumor | 16823260 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Zellweger syndrome | 21572526 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Malignant melanoma | 18718029 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Chondromyxoid Fibroma | 20696777 | CNVD |
| Cancer | 21183584 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Leukemia | 18688285 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Endocrine pancreatic tumor | 17914106 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:145818400-145819000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
