Variant report
| Variant | nsv613305 |
|---|---|
| Chromosome Location | chr9:9263980-9310461 |
| 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 | rs13291849 | chr9:9270203-9270204 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs116274393 | chr9:9270216-9270217 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs551824286 | chr9:9270235-9270236 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs570243478 | chr9:9270366-9270367 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs12341573 | chr9:9270379-9270380 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs143408336 | chr9:9270417-9270418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs567771498 | chr9:9270429-9270430 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs10816081 | chr9:9270436-9270437 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 9 | rs191522107 | chr9:9270443-9270444 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs183989494 | chr9:9270465-9270466 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs558441931 | chr9:9270483-9270484 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs188707005 | chr9:9270514-9270515 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs575089637 | chr9:9270544-9270545 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs181395063 | chr9:9270546-9270547 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs139613626 | chr9:9270553-9270554 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs572896223 | chr9:9270558-9270559 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs539815569 | chr9:9270564-9270565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs564884690 | chr9:9270565-9270566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs531421682 | chr9:9283603-9283604 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs549641038 | chr9:9283647-9283648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs10124758 | chr9:9283693-9283694 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs567745157 | chr9:9283694-9283695 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs11794583 | chr9:9283732-9283733 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs548433820 | chr9:9283760-9283761 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs17668602 | chr9:9283761-9283762 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs534092818 | chr9:9283808-9283809 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs546724953 | chr9:9283810-9283811 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs190350021 | chr9:9283825-9283826 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs182863610 | chr9:9283826-9283827 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs567106850 | chr9:9283876-9283877 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs146408443 | chr9:9283915-9283916 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs556421531 | chr9:9283916-9283917 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs187535041 | chr9:9283941-9283942 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs140808757 | chr9:9283979-9283980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs34650941 | chr9:9283980-9283981 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs144625940 | chr9:9283986-9283987 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs117753278 | chr9:9283994-9283995 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs369620633 | chr9:9283998-9283999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs146755194 | chr9:9284010-9284011 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs193055291 | chr9:9284020-9284021 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs140407667 | chr9:9284037-9284038 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs150345842 | chr9:9284119-9284120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs115070294 | chr9:9284123-9284124 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs185816000 | chr9:9284180-9284181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs547004958 | chr9:9284220-9284221 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs558578355 | chr9:9284243-9284244 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs62535766 | chr9:9284305-9284306 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 48 | rs187475944 | chr9:9284383-9284384 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs571013795 | chr9:9284385-9284386 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs192753796 | chr9:9284389-9284390 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:110)
| 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 |
| Ovarian clear cell carcinoma | 21343371 | 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:9270200-9270600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr9:9283600-9284400 | Enhancers | Fetal Kidney | kidney |
| 3 | chr9:9305800-9306000 | Enhancers | Fetal Stomach | stomach |
| 4 | chr9:9306400-9307400 | Weak transcription | Fetal Stomach | stomach |
| 5 | chr9:9307200-9309800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 6 | chr9:9307400-9308000 | Enhancers | Fetal Stomach | stomach |
| 7 | chr9:9307800-9308600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 8 | chr9:9309800-9310400 | Enhancers | Fetal Heart | heart |
| 9 | chr9:9309800-9311200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 10 | chr9:9310200-9310800 | Enhancers | Pancreas | Pancrea |
| 11 | chr9:9310400-9310600 | Enhancers | Stomach Mucosa | stomach |
