Variant report
| Variant | esv3428388 |
|---|---|
| Chromosome Location | chr12:48321332-48322108 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48296323..48299183-chr12:48320018..48324153,4 | MCF-7 | breast: | |
| 2 | chr12:48321390..48323315-chr12:48331086..48332682,3 | MCF-7 | breast: | |
| 3 | chr12:48321332..48322947-chr12:48541459..48543694,2 | K562 | blood: | |
| 4 | chr12:48320162..48322555-chr12:48324254..48326939,2 | K562 | blood: | |
| 5 | chr12:48202920..48205906-chr12:48322070..48325166,3 | MCF-7 | breast: | |
| 6 | chr12:48303456..48306045-chr12:48319476..48321750,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000111424 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs146534089 | chr12:48321332-48321333 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs571090813 | chr12:48321416-48321417 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs7973209 | chr12:48321417-48321418 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs541088591 | chr12:48321477-48321478 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs188897558 | chr12:48321510-48321511 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs141438870 | chr12:48321532-48321533 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs535449210 | chr12:48321543-48321544 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs529671763 | chr12:48321610-48321611 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs572185715 | chr12:48321627-48321628 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs551768132 | chr12:48321634-48321635 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs145185946 | chr12:48321675-48321676 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs7311856 | chr12:48321699-48321700 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 13 | rs7297624 | chr12:48321703-48321704 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs530777882 | chr12:48321737-48321738 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs201270830 | chr12:48321764-48321765 | Bivalent Enhancer Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs562599565 | chr12:48321829-48321830 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs531647543 | chr12:48321862-48321863 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs375340917 | chr12:48321867-48321868 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs561692945 | chr12:48321976-48321977 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs117019730 | chr12:48321994-48321995 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs139015411 | chr12:48322004-48322005 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs149411910 | chr12:48322025-48322026 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs539598209 | chr12:48322026-48322027 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs550366049 | chr12:48322098-48322099 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs370352637 | chr12:48322102-48322103 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs11281912 | chr12:48322103-48322104 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:69)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Adenoid cystic carcinoma | 18332873 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Melanoma | 18172304 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 17661082 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Anaplastic thyroid cancer | 18753363 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 22522925 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48318800-48323000 | Weak transcription | Duodenum Mucosa | Duodenum |
| 2 | chr12:48321000-48321800 | Bivalent Enhancer | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 3 | chr12:48321800-48322600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
