Variant report
| Variant | nsv428533 |
|---|---|
| Chromosome Location | chr9:11596151-11651686 |
| 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 | rs142897513 | chr9:11597200-11597201 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs550317365 | chr9:11597246-11597247 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs375603701 | chr9:11597284-11597285 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs546660068 | chr9:11597299-11597300 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs560742747 | chr9:11597300-11597301 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566872322 | chr9:11597305-11597306 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs367590477 | chr9:11597310-11597311 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs538638491 | chr9:11597366-11597367 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs529896728 | chr9:11597372-11597373 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs150206433 | chr9:11597422-11597423 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs77385852 | chr9:11597491-11597492 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs35226249 | chr9:11597512-11597513 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs73411441 | chr9:11597528-11597529 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs555214025 | chr9:11597535-11597536 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs74667809 | chr9:11597572-11597573 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs1822388 | chr9:11597585-11597586 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs535374674 | chr9:11611602-11611603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs137968105 | chr9:11611622-11611623 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs574459002 | chr9:11611649-11611650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs11787535 | chr9:11611655-11611656 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs572172963 | chr9:11611662-11611663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs78695579 | chr9:11611666-11611667 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs560584888 | chr9:11611715-11611716 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs554015661 | chr9:11611732-11611733 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs539063502 | chr9:11612601-11612602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs570696120 | chr9:11612603-11612604 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs76705127 | chr9:11612613-11612614 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs188641876 | chr9:11612615-11612616 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs561924094 | chr9:11612655-11612656 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs181283975 | chr9:11612673-11612674 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs541480701 | chr9:11612679-11612680 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs150555831 | chr9:11612709-11612710 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs139323145 | chr9:11612723-11612724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs549917620 | chr9:11612738-11612739 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs150006704 | chr9:11612763-11612764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs531635745 | chr9:11612774-11612775 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs34640360 | chr9:11618414-11618415 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs368560057 | chr9:11618427-11618428 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs183535198 | chr9:11618437-11618438 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs17239288 | chr9:11618444-11618445 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 41 | rs547149823 | chr9:11618458-11618459 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs563856320 | chr9:11618461-11618462 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs532898094 | chr9:11618466-11618467 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs549345071 | chr9:11618468-11618469 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs569359492 | chr9:11618508-11618509 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs187098706 | chr9:11618537-11618538 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs190438983 | chr9:11618573-11618574 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs535074769 | chr9:11618576-11618577 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs566093952 | chr9:11618581-11618582 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs535241691 | chr9:11618590-11618591 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:102)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| abnormal development | 18461090 | 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 |
| 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 |
| 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 |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Schizophrenia | 18511947 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:11597200-11597600 | Active TSS | Pancreatic Islets | Pancreatic Islet |
| 2 | chr9:11611600-11611800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr9:11612600-11612800 | Enhancers | Fetal Heart | heart |
| 4 | chr9:11618400-11618800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr9:11618600-11618800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 6 | chr9:11625800-11627800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 7 | chr9:11631200-11632200 | Enhancers | Fetal Brain Male | brain |
| 8 | chr9:11631400-11632000 | Enhancers | Fetal Brain Female | brain |
| 9 | chr9:11632000-11633000 | Weak transcription | Fetal Brain Female | brain |
| 10 | chr9:11632200-11633200 | Weak transcription | Fetal Brain Male | brain |
| 11 | chr9:11633000-11633200 | Enhancers | Fetal Brain Female | brain |
| 12 | chr9:11633200-11633600 | Enhancers | Fetal Brain Male | brain |
| 13 | chr9:11650200-11650600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
