Variant report
| Variant | esv3331154 |
|---|---|
| Chromosome Location | chr9:8947552-8949700 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs73425792 | chr9:8947561-8947562 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs138305735 | chr9:8947584-8947585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs188622697 | chr9:8947644-8947645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs533292353 | chr9:8947714-8947715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs552330209 | chr9:8947794-8947795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs545865811 | chr9:8947801-8947802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs564621826 | chr9:8947806-8947807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs531685829 | chr9:8947844-8947845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs370737711 | chr9:8947856-8947857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs568222617 | chr9:8947908-8947909 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs193174258 | chr9:8947913-8947914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs573681359 | chr9:8947915-8947916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs547762150 | chr9:8947917-8947918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs565964143 | chr9:8947920-8947921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs539434505 | chr9:8947939-8947940 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs551061188 | chr9:8947944-8947945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs72708106 | chr9:8947950-8947951 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs144049308 | chr9:8947957-8947958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs555033769 | chr9:8947984-8947985 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs574735456 | chr9:8948019-8948020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs34611971 | chr9:8948022-8948023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs185076535 | chr9:8948037-8948038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs398010276 | chr9:8948038-8948039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs535628246 | chr9:8948043-8948044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs373229794 | chr9:8948066-8948067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs13283907 | chr9:8948094-8948095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs201294172 | chr9:8948095-8948096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs13283441 | chr9:8948102-8948103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs13283442 | chr9:8948104-8948105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs201752188 | chr9:8948119-8948120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs111235214 | chr9:8948123-8948124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs572620254 | chr9:8948125-8948126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs150691819 | chr9:8948144-8948145 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs377636195 | chr9:8948150-8948151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs533429301 | chr9:8948166-8948167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs564278081 | chr9:8948218-8948219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs576491377 | chr9:8948224-8948225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs200958005 | chr9:8948234-8948235 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs543594605 | chr9:8948291-8948292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs4478630 | chr9:8948294-8948295 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 41 | rs200311259 | chr9:8948297-8948298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs192669554 | chr9:8948307-8948308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs529129773 | chr9:8948308-8948309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs200142612 | chr9:8948406-8948407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs552105843 | chr9:8948408-8948409 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs200449309 | chr9:8948413-8948414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs4567099 | chr9:8948417-8948418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs559449039 | chr9:8948425-8948426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs376009843 | chr9:8948437-8948438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs201396313 | chr9:8948438-8948439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:113)
| 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 |
| Renal cell carcinoma | 21215367 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:8947000-8950200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 2 | chr9:8947000-8955000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 3 | chr9:8949400-8949800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 4 | chr9:8949400-8950000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 5 | chr9:8949400-8950400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 6 | chr9:8949400-8950400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
