Variant report
| Variant | esv3428336 |
|---|---|
| Chromosome Location | chr12:59370537-59371032 |
| 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:34 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs143875282 | chr12:59370568-59370569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs146872582 | chr12:59370571-59370572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs543316719 | chr12:59370579-59370580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs563761764 | chr12:59370580-59370581 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs373243860 | chr12:59370603-59370604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112732770 | chr12:59370619-59370620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs581143 | chr12:59370626-59370627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs561541807 | chr12:59370665-59370666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs376478791 | chr12:59370666-59370667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs545952356 | chr12:59370689-59370690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs564617771 | chr12:59370693-59370694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs111859457 | chr12:59370695-59370696 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs528452838 | chr12:59370700-59370701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs547018410 | chr12:59370704-59370705 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs111531944 | chr12:59370706-59370707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs531640470 | chr12:59370708-59370709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs561960458 | chr12:59370709-59370710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs529243918 | chr12:59370713-59370714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs550730975 | chr12:59370717-59370718 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs568930661 | chr12:59370721-59370722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs539636952 | chr12:59370722-59370723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs551151081 | chr12:59370725-59370726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs181506182 | chr12:59370829-59370830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs370815717 | chr12:59370871-59370872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs780139 | chr12:59370874-59370875 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs11172852 | chr12:59370892-59370893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs11172853 | chr12:59370894-59370895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs566234976 | chr12:59370933-59370934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs186976195 | chr12:59370934-59370935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs201214972 | chr12:59370946-59370947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs533542306 | chr12:59370952-59370953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs554988196 | chr12:59370958-59370959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs376241905 | chr12:59370974-59370975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs201822191 | chr12:59371030-59371031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | 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 |
| 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 |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Leukemia | 18628472 | CNVD |
| Glioblastoma multiforme | 22291905 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Glaucoma | 21447600 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Developmental delay | 21267005 | CNVD |
| 12q14 microdeletion syndrome | 21267005 | CNVD |
| Developmental delay | 19277063 | CNVD |
| Dwarfism | 19277063 | CNVD |
| Fibroblasts | 20926602 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Glioblastoma multiforme | 20080666 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Glioblastoma | 17090523 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:59370200-59373400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
