Variant report
| Variant | nsv437083 |
|---|---|
| Chromosome Location | chr9:10547886-10558102 |
| 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 | rs375371380 | chr9:10548431-10548432 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs577337376 | chr9:10548442-10548443 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs138062824 | chr9:10548448-10548449 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs558191449 | chr9:10548493-10548494 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs552174587 | chr9:10548522-10548523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs191072286 | chr9:10548533-10548534 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs543805458 | chr9:10548535-10548536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs554173957 | chr9:10548548-10548549 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs574661658 | chr9:10548565-10548566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540122709 | chr9:10548571-10548572 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs148869591 | chr9:10548616-10548617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs369692757 | chr9:10548618-10548619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs560420220 | chr9:10548621-10548622 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs182414474 | chr9:10548684-10548685 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs546018358 | chr9:10548728-10548729 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs568163452 | chr9:10548747-10548748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs199500596 | chr9:10548748-10548749 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs33948585 | chr9:10548749-10548750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs112186177 | chr9:10548778-10548779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs185561330 | chr9:10548786-10548787 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs548586927 | chr9:10548797-10548798 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs557108406 | chr9:10555417-10555418 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs573991166 | chr9:10555452-10555453 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs536515904 | chr9:10555455-10555456 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs553631401 | chr9:10555469-10555470 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs833412 | chr9:10555471-10555472 | Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs189765882 | chr9:10555477-10555478 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs182992341 | chr9:10555511-10555512 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs577841496 | chr9:10555533-10555534 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs544791606 | chr9:10555547-10555548 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs543390283 | chr9:10555552-10555553 | Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs833413 | chr9:10555561-10555562 | Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 33 | rs60234108 | chr9:10556838-10556839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs112080913 | chr9:10556847-10556848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs12380636 | chr9:10556850-10556851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs552866558 | chr9:10556861-10556862 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs538706211 | chr9:10556869-10556870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs376209797 | chr9:10556888-10556889 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs369390524 | chr9:10556896-10556897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs555440370 | chr9:10556897-10556898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs184846963 | chr9:10556909-10556910 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs188961025 | chr9:10556931-10556932 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs138650874 | chr9:10556933-10556934 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs371799652 | chr9:10556944-10556945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs181693244 | chr9:10556950-10556951 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs552651172 | chr9:10556961-10556962 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs186392434 | chr9:10556984-10556985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs558402042 | chr9:10557006-10557007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs574884525 | chr9:10557030-10557031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs543849998 | chr9:10557049-10557050 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:112)
| Disease | PMID | Source |
|---|---|---|
| abnormal development | 18461090 | CNVD |
| Disorders of sex development | 21048976 | 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 |
| Glioblastoma multiforme | 21080181 | 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 |
| Intellectual disability | 22102821 | 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 |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma | 19074898 | CNVD |
| Malignant melanoma | 19074898 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Cancer | 20164920 | 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 |
| Autism | 20858261 | CNVD |
| Epilepsy | 20858261 | CNVD |
| Mental retardation | 20858261 | CNVD |
| Developmental delay | 21147756 | CNVD |
| small cell lung cancer | 21764851 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Glioma | 17123091 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Cutaneous squamous cell carcinomas | 17420988 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pilocytic astrocytoma | 18670637 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Melanoma | 22183965 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:10548400-10548800 | Enhancers | H9 Cell Line | embryonic stem cell |
| 2 | chr9:10548400-10548800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr9:10548400-10548800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr9:10555400-10555600 | Bivalent Enhancer | Esophagus | oesophagus |
| 5 | chr9:10556800-10557600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 6 | chr9:10556800-10557600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr9:10557200-10557600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 8 | chr9:10557200-10557600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 9 | chr9:10557400-10557800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 10 | chr9:10557600-10558000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
