Variant report
| Variant | nsv1032094 |
|---|---|
| Chromosome Location | chr9:11413948-11453079 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs543937759 | chr9:11414025-11414026 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs4317672 | chr9:11414026-11414027 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs4570263 | chr9:11414092-11414093 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs546892248 | chr9:11414104-11414105 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs1577437 | chr9:11414134-11414135 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs1577436 | chr9:11414180-11414181 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 7 | rs552832900 | chr9:11414204-11414205 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542994986 | chr9:11414212-11414213 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs114089355 | chr9:11414223-11414224 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs192580710 | chr9:11414231-11414232 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs149275970 | chr9:11414247-11414248 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs568592230 | chr9:11414273-11414274 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs534256990 | chr9:11414291-11414292 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs114774535 | chr9:11414297-11414298 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs113809501 | chr9:11414325-11414326 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs572989206 | chr9:11414338-11414339 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs538593131 | chr9:11414342-11414343 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs115356822 | chr9:11414349-11414350 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs375538934 | chr9:11414359-11414360 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs7020922 | chr9:11414367-11414368 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs543826043 | chr9:11414380-11414381 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs560513069 | chr9:11414385-11414386 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs368358763 | chr9:11414393-11414394 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs574459405 | chr9:11414428-11414429 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs540277202 | chr9:11414429-11414430 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs560569199 | chr9:11414449-11414450 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs565891182 | chr9:11414460-11414461 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs113977792 | chr9:11414472-11414473 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs552631359 | chr9:11414501-11414502 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs11789526 | chr9:11414516-11414517 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs532017393 | chr9:11414524-11414525 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs187107883 | chr9:11414598-11414599 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs568415520 | chr9:11414601-11414602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs115789021 | chr9:11414689-11414690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs547857882 | chr9:11414696-11414697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs566581843 | chr9:11414708-11414709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs538804640 | chr9:11414719-11414720 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs2382286 | chr9:11414732-11414733 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs72698165 | chr9:11414733-11414734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs533554621 | chr9:11414737-11414738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs537705831 | chr9:11414893-11414894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs191661586 | chr9:11414897-11414898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs574372989 | chr9:11414940-11414941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs184476762 | chr9:11414974-11414975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs148002479 | chr9:11414982-11414983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs577396650 | chr9:11414992-11414993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs552048306 | chr9:11415023-11415024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs528542124 | chr9:11415030-11415031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs570141300 | chr9:11415112-11415113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs563040119 | chr9:11415118-11415119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:104)
| 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 | 18451855 | CNVD |
| Glioma | 20126413 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:11413200-11414600 | ZNF genes & repeats | Spleen | Spleen |
| 2 | chr9:11413600-11414000 | ZNF genes & repeats | Pancreas | Pancrea |
| 3 | chr9:11414000-11421000 | Weak transcription | Pancreas | Pancrea |
| 4 | chr9:11416800-11418200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 5 | chr9:11417800-11425800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 6 | chr9:11425800-11426000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 7 | chr9:11426200-11426600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 8 | chr9:11426600-11431800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 9 | chr9:11427600-11428800 | Enhancers | Fetal Heart | heart |
| 10 | chr9:11428800-11429200 | Weak transcription | Fetal Heart | heart |
| 11 | chr9:11429200-11429400 | Enhancers | Fetal Heart | heart |
| 12 | chr9:11429400-11432400 | Weak transcription | Fetal Heart | heart |
| 13 | chr9:11431400-11431800 | Enhancers | Fetal Brain Male | brain |
| 14 | chr9:11431600-11431800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 15 | chr9:11431800-11432400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 16 | chr9:11432200-11432600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 17 | chr9:11432400-11434200 | Enhancers | Fetal Heart | heart |
| 18 | chr9:11433400-11433800 | Active TSS | Right Atrium | heart |
| 19 | chr9:11434200-11434600 | Weak transcription | Fetal Heart | heart |
| 20 | chr9:11434600-11435600 | Enhancers | Fetal Heart | heart |
| 21 | chr9:11447600-11448400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 22 | chr9:11451600-11451800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 23 | chr9:11452000-11452400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
