Variant report
| Variant | esv3376557 |
|---|---|
| Chromosome Location | chr6:142821484-142821696 |
| 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 | chr6:142815726..142818546-chr6:142820153..142822884,2 | 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 | rs370542314 | chr6:142821491-142821492 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs189387223 | chr6:142821494-142821495 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs574239350 | chr6:142821499-142821500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs34815515 | chr6:142821542-142821543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs62430187 | chr6:142821543-142821544 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs374909388 | chr6:142821573-142821574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs547028298 | chr6:142821594-142821595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs555691065 | chr6:142821616-142821617 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs577262366 | chr6:142821634-142821635 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs28452236 | chr6:142821673-142821674 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:79)
| 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 |
| Primary central nervous system lymphoma | 21088137 | 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 |
| Breast cancer | 21364760 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:142821000-142822400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 2 | chr6:142821200-142822000 | Enhancers | HSMMtube | muscle |
| 3 | chr6:142821200-142822000 | Enhancers | Osteobl | bone |
| 4 | chr6:142821400-142822400 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 5 | chr6:142821600-142822000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 6 | chr6:142821600-142822000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 7 | chr6:142821600-142822000 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
