Variant report
| Variant | nsv963916 |
|---|---|
| Chromosome Location | chr2:57969885-57973120 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-VRK2-11 | chr2:57972558-57972765 | NONHSAT147090 |
| 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 | rs553862683 | chr2:57972558-57972559 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs567286137 | chr2:57972579-57972580 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs147440053 | chr2:57972610-57972611 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs17049105 | chr2:57972611-57972612 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs575834612 | chr2:57972615-57972616 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs188749292 | chr2:57972652-57972653 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs558068971 | chr2:57972672-57972673 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs112000154 | chr2:57972673-57972674 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 9 | rs577772445 | chr2:57972726-57972727 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 10 | rs142225496 | chr2:57972732-57972733 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 11 | rs192133539 | chr2:57972761-57972762 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 12 | rs571363729 | chr2:57973032-57973033 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs527448608 | chr2:57973074-57973075 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs547538916 | chr2:57973080-57973081 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs553204018 | chr2:57973102-57973103 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:79)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| abnormal development | 18461090 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Chronic lymphocytic leukemia | 17053054 | CNVD |
| Hereditary non-polyposis colorectal cancer | 19566914 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Microcephaly | 20799320 | CNVD |
| camptodactyly | 20799320 | CNVD |
| cognitive delay | 20799320 | CNVD |
| prenatal and postnatal growth deficiency | 20799320 | CNVD |
| ptosis of eyelids | 20799320 | CNVD |
| Maculopathy | 20981449 | CNVD |
| 2p16.1 microdeletion syndrome | 22283845 | CNVD |
| Autism | 22579565 | CNVD |
| Autism | 16963482 | CNVD |
| Autism | 21750575 | CNVD |
| idiopathic intellectual disability | 16963482 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Follicular lymphoma | 17699855 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:57973000-57973400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
