Variant report
| Variant | esv3517995 |
|---|---|
| Chromosome Location | chr12:59797873-59798354 |
| 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:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs570642826 | chr12:59797880-59797881 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs528233828 | chr12:59797896-59797897 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs546678096 | chr12:59797897-59797898 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs563868185 | chr12:59797948-59797949 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs113424475 | chr12:59798020-59798021 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs140870486 | chr12:59798038-59798039 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs568161895 | chr12:59798238-59798239 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs532780768 | chr12:59798263-59798264 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs115913592 | chr12:59798272-59798273 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs556983158 | chr12:59798278-59798279 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs276059 | chr12:59798352-59798353 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 | chr12:59797200-59798000 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr12:59797400-59798000 | Flanking Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 3 | chr12:59797400-59798400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 4 | chr12:59797600-59802200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 5 | chr12:59797800-59798400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 6 | chr12:59797800-59801800 | Weak transcription | Brain Hippocampus Middle | brain |
| 7 | chr12:59797800-59802000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 8 | chr12:59798000-59798200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
