Variant report
| Variant | nsv947632 |
|---|---|
| Chromosome Location | chr10:57766093-57768757 |
| 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 | chr10:57757077..57758579-chr10:57764722..57766777,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:22 , 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 | rs74136776 | chr10:57768042-57768043 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs138834534 | chr10:57768046-57768047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs1500764 | chr10:57768107-57768108 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs371826372 | chr10:57768109-57768110 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149346164 | chr10:57768123-57768124 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112291030 | chr10:57768149-57768150 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs540110606 | chr10:57768152-57768153 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs1500765 | chr10:57768208-57768209 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs576203426 | chr10:57768239-57768240 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12251757 | chr10:57768266-57768267 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs555403193 | chr10:57768387-57768388 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs183246782 | chr10:57768413-57768414 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs74136777 | chr10:57768418-57768419 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs564494024 | chr10:57768431-57768432 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs568341516 | chr10:57768464-57768465 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs187601250 | chr10:57768465-57768466 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs191012211 | chr10:57768492-57768493 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs183166661 | chr10:57768505-57768506 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs563493771 | chr10:57768514-57768515 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs529064212 | chr10:57768520-57768521 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs188192461 | chr10:57768576-57768577 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs533839278 | chr10:57768597-57768598 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 18414403 | CNVD |
| Cockayne syndrome | 18421352 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Glioma | 21971842 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Obesity | 21956041 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Autism | 20841430 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Epilepsy | 20923578 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Schizophrenia | 19329560 | CNVD |
| Heart failure | 18772530 | CNVD |
| Heart failure | 18854381 | CNVD |
| Hyperglycemia | 19060297 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Usher syndrome | 20538994 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Autism | 20858243 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| small cell lung cancer | 17426248 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:57768000-57768200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr10:57768200-57768600 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
