Variant report
| Variant | esv3489784 |
|---|---|
| Chromosome Location | chr2:133115532-133115816 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs538196412 | chr2:133115532-133115533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs550625090 | chr2:133115534-133115535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs377389337 | chr2:133115547-133115548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs369520245 | chr2:133115548-133115549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs146214137 | chr2:133115557-133115558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs181416144 | chr2:133115566-133115567 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs200379039 | chr2:133115572-133115573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs371535406 | chr2:133115587-133115588 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572650428 | chr2:133115661-133115662 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs533642901 | chr2:133115676-133115677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs555399925 | chr2:133115705-133115706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs375813426 | chr2:133115711-133115712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs185169028 | chr2:133115714-133115715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs544166807 | chr2:133115736-133115737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs190264185 | chr2:133115750-133115751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs201635738 | chr2:133115789-133115790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs201524368 | chr2:133115798-133115799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs199653688 | chr2:133115799-133115800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs200536764 | chr2:133115802-133115803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs59004132 | chr2:133115805-133115806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs71430490 | chr2:133115806-133115807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs77635447 | chr2:133115816-133115817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| 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 |
| Pancreatic ductal adenocarcinoma | 19077451 | 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 |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:133111400-133118600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr2:133111400-133118600 | Weak transcription | Pancreas | Pancrea |
