Variant report
| Variant | nsv1028867 |
|---|---|
| Chromosome Location | chr9:1783885-1798984 |
| 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 | rs371417059 | chr9:1786628-1786629 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530575442 | chr9:1786636-1786637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs186567981 | chr9:1786677-1786678 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs7048135 | chr9:1786681-1786682 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 5 | rs189754091 | chr9:1786724-1786725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs546693230 | chr9:1786725-1786726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs528539118 | chr9:1786735-1786736 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs74583657 | chr9:1786750-1786751 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs182416947 | chr9:1786792-1786793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs556068882 | chr9:1786809-1786810 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs569445895 | chr9:1786829-1786830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs563532052 | chr9:1786838-1786839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs12236808 | chr9:1786859-1786860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs368276332 | chr9:1786865-1786866 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs573523310 | chr9:1786871-1786872 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs577581086 | chr9:1786902-1786903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs116913509 | chr9:1786906-1786907 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs553800549 | chr9:1786923-1786924 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs572709350 | chr9:1786929-1786930 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs145860711 | chr9:1786969-1786970 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs562044657 | chr9:1786986-1786987 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs148940474 | chr9:1786988-1786989 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs544462238 | chr9:1786996-1786997 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs564094918 | chr9:1786999-1787000 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs532912049 | chr9:1787021-1787022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs376782797 | chr9:1787022-1787023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs546730217 | chr9:1787034-1787035 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs143656381 | chr9:1787065-1787066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs148075550 | chr9:1787096-1787097 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs549286202 | chr9:1787109-1787110 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs4740649 | chr9:1787114-1787115 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs538169002 | chr9:1787127-1787128 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs187041368 | chr9:1787137-1787138 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs142866685 | chr9:1787150-1787151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs55858939 | chr9:1787184-1787185 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 36 | rs375393775 | chr9:1788802-1788803 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs559876881 | chr9:1788831-1788832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs75199638 | chr9:1788838-1788839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs199900380 | chr9:1788841-1788842 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs567198551 | chr9:1788846-1788847 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs547548587 | chr9:1788854-1788855 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs372393358 | chr9:1788868-1788869 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs181830289 | chr9:1788871-1788872 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs549763797 | chr9:1788878-1788879 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs186387337 | chr9:1788882-1788883 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs561251237 | chr9:1788916-1788917 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs558279414 | chr9:1788919-1788920 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs571788634 | chr9:1788923-1788924 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs534943048 | chr9:1788925-1788926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs79625262 | chr9:1788927-1788928 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:102)
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 21720365 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Melanoma | 18172304 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Williams-beuren syndrome | 18553513 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Pilocytic astrocytoma | 18622384 | CNVD |
| Pilomyxoid astrocytoma | 18622384 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| prenatal diagnosis | 20453657 | CNVD |
| Gastric cancer | 16715143 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| 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 |
| 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 |
| 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 |
| 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 |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 20531469 | 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 |
| Prostate cancer | 18632612 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:1786600-1787200 | Enhancers | GM12878-XiMat | blood |
| 2 | chr9:1788800-1789200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr9:1791600-1791800 | Enhancers | Fetal Brain Female | brain |
| 4 | chr9:1792000-1794000 | Weak transcription | Fetal Brain Female | brain |
| 5 | chr9:1792000-1797400 | Enhancers | Fetal Brain Male | brain |
| 6 | chr9:1793000-1793200 | Enhancers | Brain Germinal Matrix | brain |
| 7 | chr9:1793200-1794800 | Weak transcription | Brain Germinal Matrix | brain |
| 8 | chr9:1794000-1796800 | Enhancers | Fetal Brain Female | brain |
| 9 | chr9:1794800-1795400 | Enhancers | Brain Germinal Matrix | brain |
