Variant report
| Variant | nsv961537 |
|---|---|
| Chromosome Location | chr2:180602316-180604354 |
| 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 | chr2:180602698..180605470-chr2:180624770..180626528,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:11 , 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 | rs193274294 | chr2:180604234-180604235 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs77114847 | chr2:180604237-180604238 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs185419605 | chr2:180604240-180604241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs552670590 | chr2:180604250-180604251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs565099758 | chr2:180604261-180604262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs530757072 | chr2:180604276-180604277 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs563157435 | chr2:180604277-180604278 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs368288703 | chr2:180604290-180604291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs144404048 | chr2:180604321-180604322 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs17773184 | chr2:180604327-180604328 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs147411809 | chr2:180604331-180604332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:48)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | 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 |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | 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 |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:180604200-180608600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
