Variant report
| Variant | nsv523835 |
|---|---|
| Chromosome Location | chr3:99052147-99052465 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs9861463 | chr3:99052147-99052148 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs181991617 | chr3:99052151-99052152 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs60497922 | chr3:99052202-99052203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs373339625 | chr3:99052203-99052204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs553326481 | chr3:99052213-99052214 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs397952632 | chr3:99052214-99052215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs573140650 | chr3:99052226-99052227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs545257464 | chr3:99052230-99052231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs369544653 | chr3:99052268-99052269 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs57267904 | chr3:99052269-99052270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs565068781 | chr3:99052270-99052271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs67014547 | chr3:99052278-99052279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs142026096 | chr3:99052287-99052288 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs112521499 | chr3:99052288-99052289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs397822769 | chr3:99052289-99052290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs201726951 | chr3:99052290-99052291 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs199873597 | chr3:99052304-99052305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs544284089 | chr3:99052324-99052325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs560779909 | chr3:99052331-99052332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs529642602 | chr3:99052348-99052349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs147074150 | chr3:99052355-99052356 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs559632420 | chr3:99052366-99052367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs528741728 | chr3:99052383-99052384 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs184830942 | chr3:99052398-99052399 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs16841056 | chr3:99052465-99052466 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:52)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Epilepsy | 21858020 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:99050000-99055200 | Weak transcription | Aorta | Aorta |
| 2 | chr3:99050000-99056600 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 3 | chr3:99050800-99052200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
