Variant report
| Variant | esv3407291 |
|---|---|
| Chromosome Location | chr2:133865009-133865290 |
| 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:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs565179542 | chr2:133865016-133865017 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs552530651 | chr2:133865018-133865019 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs185628185 | chr2:133865026-133865027 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs570888785 | chr2:133865048-133865049 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs535095947 | chr2:133865063-133865064 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs546748857 | chr2:133865093-133865094 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs11887605 | chr2:133865130-133865131 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs386650749 | chr2:133865181-133865182 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs535611836 | chr2:133865186-133865187 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs190421329 | chr2:133865226-133865227 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs575529648 | chr2:133865232-133865233 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539088541 | chr2:133865233-133865234 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Mowat-Wilson syndrome | 21572526 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| myoclonus epilepsy | 18472482 | CNVD |
| Benign familial neonatal-infantile seizures | 18472482 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Mental retardation | 17621639 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| Neuroticism | 17667963 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:133853000-133867400 | Weak transcription | Brain Hippocampus Middle | brain |
| 2 | chr2:133854800-133892000 | Weak transcription | Left Ventricle | heart |
| 3 | chr2:133855600-133867800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 4 | chr2:133864000-133865800 | Enhancers | Fetal Brain Male | brain |
| 5 | chr2:133865000-133867800 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 6 | chr2:133865200-133870400 | Weak transcription | NHLF | lung |
