Variant report
| Variant | esv3441945 |
|---|---|
| Chromosome Location | chr2:133491980-133492256 |
| 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 | rs533995429 | chr2:133491989-133491990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555868467 | chr2:133491992-133491993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs372765003 | chr2:133492094-133492095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs574148854 | chr2:133492112-133492113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs377197712 | chr2:133492129-133492130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs192368503 | chr2:133492154-133492155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs1430629 | chr2:133492173-133492174 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 8 | rs577879118 | chr2:133492175-133492176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs545314540 | chr2:133492176-133492177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs72551669 | chr2:133492205-133492206 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs12619898 | chr2:133492206-133492207 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 12 | rs72844773 | chr2:133492247-133492248 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:133474800-133497800 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 2 | chr2:133475000-133492800 | Weak transcription | Brain Substantia Nigra | brain |
| 3 | chr2:133476200-133497400 | Weak transcription | Fetal Brain Female | brain |
| 4 | chr2:133477800-133497000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 5 | chr2:133487200-133495800 | Weak transcription | Fetal Brain Male | brain |
| 6 | chr2:133489200-133497200 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 7 | chr2:133489600-133514600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 8 | chr2:133491000-133492400 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
