Variant report
| Variant | nsv517829 |
|---|---|
| Chromosome Location | chr3:109960797-109961194 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:109956842..109959360-chr3:109959849..109962429,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2399299 | chr3:109960797-109960798 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs117233642 | chr3:109960819-109960820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs370937143 | chr3:109960860-109960861 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567860366 | chr3:109960889-109960890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs115323850 | chr3:109960950-109960951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs539705293 | chr3:109960952-109960953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs187495615 | chr3:109960965-109960966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs572401704 | chr3:109960968-109960969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs576319916 | chr3:109960993-109960994 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs190779012 | chr3:109961002-109961003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs561420338 | chr3:109961012-109961013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs141936284 | chr3:109961058-109961059 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs541805655 | chr3:109961135-109961136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs543629665 | chr3:109961164-109961165 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563491137 | chr3:109961167-109961168 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs1870799 | chr3:109961192-109961193 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs9883805 | chr3:109961194-109961195 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | 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 |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Developmental delay | 22180640 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:109956400-109961200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
