Variant report
| Variant | nsv818714 |
|---|---|
| Chromosome Location | chr9:105974754-105983780 |
| 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 | chr9:105976143..105978580-chr9:106020426..106022404,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:12 , 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 | rs559243370 | chr9:105979401-105979402 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs79264529 | chr9:105979448-105979449 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs58157528 | chr9:105979461-105979462 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs184565484 | chr9:105979478-105979479 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs142277766 | chr9:105979494-105979495 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs574701024 | chr9:105979495-105979496 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs543660604 | chr9:105979500-105979501 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs544754894 | chr9:105979521-105979522 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs577160444 | chr9:105979546-105979547 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs545909041 | chr9:105979547-105979548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs187205828 | chr9:105979553-105979554 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs528548185 | chr9:105979587-105979588 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 18172304 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Leukemia | 17361228 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Leukemia | 18688285 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Brain cancer | 20823417 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Heart disease | 21282601 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cardiac fibroma | 18329553 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Fukuyama congenital muscular dystrophy | 21572526 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Developmental delay | 21147756 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:105979400-105979600 | Enhancers | Aorta | Aorta |
