Variant report
| Variant | esv3398896 |
|---|---|
| Chromosome Location | chr12:68416586-68416937 |
| 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 | rs538635851 | chr12:68416624-68416625 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs10878726 | chr12:68416645-68416646 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs141429642 | chr12:68416679-68416680 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs185028118 | chr12:68416688-68416689 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs368034778 | chr12:68416715-68416716 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs568977807 | chr12:68416734-68416735 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs189399715 | chr12:68416811-68416812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs150899779 | chr12:68416821-68416822 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs192383944 | chr12:68416905-68416906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs73324894 | chr12:68416911-68416912 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs184781333 | chr12:68416912-68416913 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:87)
| 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 |
| 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 |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | 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 |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Leukemia | 18628472 | CNVD |
| Fibroblasts | 20926602 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Mental retardation | 17220210 | CNVD |
| Osteopoikilosis | 17220210 | CNVD |
| short stature | 17220210 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Breast cancer | 22048815 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 21113617 | CNVD |
| Glioblastoma multiforme | 22291905 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Disease | 21505450 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Glioblastoma multiforme | 21569311 | CNVD |
| Bone cancer | 16732325 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Lung cancer | 20031968 | CNVD |
| Glioblastoma | 17090523 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Lung cancer | 21569311 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:68398400-68422200 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
| 2 | chr12:68406000-68425200 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
| 3 | chr12:68406400-68426000 | Weak transcription | Primary T cells fromperipheralblood | blood |
| 4 | chr12:68411400-68418600 | Weak transcription | Primary B cells from peripheral blood | blood |
| 5 | chr12:68413400-68417000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 6 | chr12:68415800-68416800 | Strong transcription | Primary Natural Killer cells fromperipheralblood | blood |
| 7 | chr12:68416200-68421600 | Weak transcription | Primary B cells from cord blood | blood |
| 8 | chr12:68416200-68425400 | Weak transcription | Primary T cells from cord blood | blood |
| 9 | chr12:68416400-68418400 | Weak transcription | Left Ventricle | heart |
| 10 | chr12:68416800-68426000 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
