Variant report
| Variant | esv1994025 |
|---|---|
| Chromosome Location | chr12:67252847-67253269 |
| 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:30 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs559117216 | chr12:67252857-67252858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs200339439 | chr12:67252889-67252890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs533296635 | chr12:67252906-67252907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs138049519 | chr12:67252915-67252916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs570060149 | chr12:67252916-67252917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs558194230 | chr12:67252923-67252924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs183677910 | chr12:67252933-67252934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs116961385 | chr12:67252975-67252976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs186613072 | chr12:67252982-67252983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs567715497 | chr12:67252989-67252990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs535120611 | chr12:67252994-67252995 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs142585031 | chr12:67252999-67253000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs75806014 | chr12:67253005-67253006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs11176456 | chr12:67253037-67253038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs201432739 | chr12:67253038-67253039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs71088215 | chr12:67253039-67253040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs12815146 | chr12:67253040-67253041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs79767179 | chr12:67253042-67253043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs78705056 | chr12:67253043-67253044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs149281250 | chr12:67253048-67253049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs557684348 | chr12:67253056-67253057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs200178314 | chr12:67253064-67253065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs79510714 | chr12:67253072-67253073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs373812094 | chr12:67253077-67253078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs11610765 | chr12:67253080-67253081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs76657778 | chr12:67253088-67253089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs77887632 | chr12:67253135-67253136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs35121212 | chr12:67253149-67253150 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs543008296 | chr12:67253195-67253196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs34447017 | chr12:67253256-67253257 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:80)
| 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 |
| Lung cancer | 16773561 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | 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 |
| Neuroticism | 17667963 | 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:67246000-67254400 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr12:67252000-67253400 | Weak transcription | Primary T cells from cord blood | blood |
