Variant report
| Variant | nsv972257 |
|---|---|
| Chromosome Location | chr9:7662970-7666336 |
| 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 | rs143068500 | chr9:7665430-7665431 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs545628041 | chr9:7665462-7665463 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs563937589 | chr9:7665473-7665474 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs188302654 | chr9:7665479-7665480 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs180697026 | chr9:7665497-7665498 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs184712361 | chr9:7665499-7665500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs79443685 | chr9:7665501-7665502 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546426273 | chr9:7665503-7665504 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs189202396 | chr9:7665553-7665554 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs538313398 | chr9:7665568-7665569 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs532133679 | chr9:7665571-7665572 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs560414688 | chr9:7665598-7665599 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs568780449 | chr9:7665649-7665650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs10976487 | chr9:7665695-7665696 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs35418580 | chr9:7665698-7665699 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs549343709 | chr9:7665701-7665702 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs146144802 | chr9:7665709-7665710 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs9942918 | chr9:7665710-7665711 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs553464869 | chr9:7665762-7665763 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs578156039 | chr9:7665783-7665784 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs539207300 | chr9:7665791-7665792 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs182332793 | chr9:7665796-7665797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs9942927 | chr9:7665828-7665829 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs542994292 | chr9:7665831-7665832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs560938829 | chr9:7665834-7665835 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs572701493 | chr9:7665850-7665851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs540230290 | chr9:7665854-7665855 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs9942919 | chr9:7665856-7665857 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 29 | rs532096603 | chr9:7665891-7665892 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs573728322 | chr9:7665903-7665904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs74523254 | chr9:7665904-7665905 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs201620658 | chr9:7665908-7665909 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs562376601 | chr9:7665920-7665921 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs529990761 | chr9:7665943-7665944 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs112242388 | chr9:7665962-7665963 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs368517665 | chr9:7665969-7665970 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs528443366 | chr9:7665977-7665978 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs568222803 | chr9:7665982-7665983 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs2930739 | chr9:7665984-7665985 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 40 | rs148616048 | chr9:7666027-7666028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs539172479 | chr9:7666034-7666035 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs557904607 | chr9:7666037-7666038 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs547687411 | chr9:7666056-7666057 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs3005760 | chr9:7666089-7666090 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 45 | rs569399427 | chr9:7666126-7666127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs373565392 | chr9:7666130-7666131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs111394577 | chr9:7666132-7666133 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs186899533 | chr9:7666136-7666137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs573495160 | chr9:7666139-7666140 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs539810789 | chr9:7666141-7666142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:99)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| 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 |
| 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 |
| Developmental delay | 21147756 | 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 |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Renal cell carcinoma | 21668985 | 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 |
| Medulloblastoma | 16783165 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Cancer | 20164920 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:7665400-7666200 | Enhancers | H1 Cell Line | embryonic stem cell |
| 2 | chr9:7665400-7666400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr9:7665400-7666600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 4 | chr9:7665600-7666200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr9:7665600-7666400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 6 | chr9:7665600-7666400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 7 | chr9:7665600-7666600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 8 | chr9:7665800-7666200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 9 | chr9:7666000-7666600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 10 | chr9:7666000-7666600 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
