Variant report
| Variant | nsv526139 |
|---|---|
| Chromosome Location | chr2:133951544-133952040 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs10176380 | chr2:133951544-133951545 | Weak transcription Flanking Active TSS Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs568748876 | chr2:133951561-133951562 | Weak transcription Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs539463757 | chr2:133951562-133951563 | Weak transcription Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs553355217 | chr2:133951619-133951620 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs10199346 | chr2:133951626-133951627 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs10928447 | chr2:133951683-133951684 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs553757746 | chr2:133951694-133951695 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs563441351 | chr2:133951721-133951722 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs375764396 | chr2:133951736-133951737 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200519287 | chr2:133951741-133951742 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs115849619 | chr2:133951745-133951746 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs142084576 | chr2:133951792-133951793 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs530229020 | chr2:133951966-133951967 | Weak transcription Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs116280125 | chr2:133951989-133951990 | Weak transcription Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs12691834 | chr2:133952040-133952041 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | mRNA abundance |
Variant related diseases (count:57)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:133950800-133952600 | Flanking Active TSS | Liver | Liver |
| 2 | chr2:133951000-133951600 | Enhancers | A549 | lung |
| 3 | chr2:133951000-133954000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 4 | chr2:133951600-133951800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 5 | chr2:133951600-133952200 | Flanking Active TSS | A549 | lung |
| 6 | chr2:133951800-133952000 | Enhancers | NHLF | lung |
| 7 | chr2:133951800-133952200 | Enhancers | HUVEC | blood vessel |
| 8 | chr2:133951800-133952200 | Enhancers | NHDF-Ad | bronchial |
| 9 | chr2:133952000-133952800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 10 | chr2:133952000-133956400 | Weak transcription | NHLF | lung |
