Variant report
| Variant | nsv613302 |
|---|---|
| Chromosome Location | chr9:8975175-8993618 |
| 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 |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs72708155 | chr9:8980610-8980611 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs540456406 | chr9:8980631-8980632 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs565136294 | chr9:8980639-8980640 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs532737737 | chr9:8980654-8980655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs570387341 | chr9:8980664-8980665 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs562740319 | chr9:8980692-8980693 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs530074168 | chr9:8980714-8980715 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs192513719 | chr9:8980729-8980730 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs139165190 | chr9:8980776-8980777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs534263645 | chr9:8980801-8980802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs62529151 | chr9:8980807-8980808 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs1433536 | chr9:8980814-8980815 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs537753078 | chr9:8980815-8980816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs556396474 | chr9:8980818-8980819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs1433537 | chr9:8980821-8980822 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs183913987 | chr9:8980824-8980825 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs141688515 | chr9:8980875-8980876 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs12554851 | chr9:8980881-8980882 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs549300397 | chr9:8980904-8980905 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs545486529 | chr9:8980905-8980906 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs527836134 | chr9:8980906-8980907 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs561486879 | chr9:8980911-8980912 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs77755870 | chr9:8980954-8980955 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs369970778 | chr9:8981000-8981001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs544598591 | chr9:8981038-8981039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs563161132 | chr9:8981055-8981056 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs530310834 | chr9:8981068-8981069 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs143228442 | chr9:8981081-8981082 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs200189232 | chr9:8981124-8981125 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs386471054 | chr9:8981129-8981130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs373837932 | chr9:8981133-8981134 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs533535916 | chr9:8981181-8981182 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs77549978 | chr9:8981197-8981198 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs550085079 | chr9:8981229-8981230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs552662441 | chr9:8981230-8981231 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs149677243 | chr9:8981246-8981247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs531500213 | chr9:8981282-8981283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs12552498 | chr9:8981295-8981296 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs568373763 | chr9:8981299-8981300 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs76337238 | chr9:8981350-8981351 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs200914541 | chr9:8981403-8981404 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs554990305 | chr9:8981537-8981538 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs565288487 | chr9:8981549-8981550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs565298837 | chr9:8981551-8981552 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs79594292 | chr9:8981561-8981562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs557803053 | chr9:8981566-8981567 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs187236047 | chr9:8981614-8981615 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs546823861 | chr9:8981627-8981628 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs191666919 | chr9:8981638-8981639 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs1036278 | chr9:8981644-8981645 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:112)
| Disease | PMID | Source |
|---|---|---|
| Intracranial aneurysm | 16715129 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Disorders of sex development | 22290220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-small cell lung cancer | 21952639 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| abnormal development | 18461090 | CNVD |
| Honadal dysgenesis | 21048976 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Melanoma | 18172304 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myopathy | 18421352 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Acute lymphoblastic leukemia | 18957548 | CNVD |
| Myeloproliferative neoplasm | 17564968 | CNVD |
| Malignant meningioma | 17937814 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Cancer | 20164919 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| XY gonadal dysgenesis | 20685758 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Oral cancer | 21386901 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Glioblastoma | 19074898 | CNVD |
| Malignant melanoma | 19074898 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Cancer | 20164920 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Schizophrenia | 20838587 | CNVD |
| Glioblastoma | 18772890 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 20858261 | CNVD |
| Epilepsy | 20858261 | CNVD |
| Mental retardation | 20858261 | CNVD |
| Developmental delay | 21147756 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:8980600-8981200 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 2 | chr9:8980600-8982000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 3 | chr9:8987200-8987600 | Enhancers | H9 Cell Line | embryonic stem cell |
| 4 | chr9:8987200-8987600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 5 | chr9:8987200-8987600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 6 | chr9:8987200-8987800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 7 | chr9:8987200-8988000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 8 | chr9:8987400-8987800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 9 | chr9:8987400-8988000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
