Variant report
| Variant | nsv892349 |
|---|---|
| Chromosome Location | chr9:11401927-11431917 |
| 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 | rs10959772 | chr9:11402429-11402430 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs74420382 | chr9:11402433-11402434 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs567546871 | chr9:11402450-11402451 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs10121493 | chr9:11402453-11402454 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs534630508 | chr9:11402455-11402456 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs557807983 | chr9:11402492-11402493 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs58669772 | chr9:11402493-11402494 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs537152868 | chr9:11402499-11402500 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs145962465 | chr9:11402507-11402508 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs4593654 | chr9:11402513-11402514 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs375989239 | chr9:11402535-11402536 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs543191121 | chr9:11402588-11402589 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs375836586 | chr9:11402603-11402604 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs4483254 | chr9:11402619-11402620 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs138797586 | chr9:11402623-11402624 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs4560889 | chr9:11402624-11402625 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs4483255 | chr9:11402634-11402635 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs182298638 | chr9:11402649-11402650 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs371045161 | chr9:11402718-11402719 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs186616636 | chr9:11402776-11402777 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs530485658 | chr9:11413201-11413202 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs550769451 | chr9:11413218-11413219 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs567471559 | chr9:11413219-11413220 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs536592032 | chr9:11413235-11413236 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs553381568 | chr9:11413295-11413296 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs566892393 | chr9:11413316-11413317 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs538634151 | chr9:11413342-11413343 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs147756008 | chr9:11413348-11413349 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs372818247 | chr9:11413349-11413350 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs575825759 | chr9:11413353-11413354 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs112061456 | chr9:11413359-11413360 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs557196109 | chr9:11413360-11413361 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs573877865 | chr9:11413361-11413362 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs192110049 | chr9:11413365-11413366 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs183904202 | chr9:11413367-11413368 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs187660749 | chr9:11413369-11413370 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs544692703 | chr9:11413432-11413433 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs142598286 | chr9:11413444-11413445 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs2105055 | chr9:11413458-11413459 | Enhancers ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 40 | rs550255886 | chr9:11413459-11413460 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs112036813 | chr9:11413469-11413470 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs146772128 | chr9:11413489-11413490 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs547299615 | chr9:11413509-11413510 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs2095486 | chr9:11413520-11413521 | Enhancers ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 45 | rs371969199 | chr9:11413521-11413522 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs539286040 | chr9:11413550-11413551 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs559052626 | chr9:11413607-11413608 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs3939456 | chr9:11413608-11413609 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 49 | rs569229781 | chr9:11413611-11413612 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs538389503 | chr9:11413648-11413649 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:103)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:11402400-11402800 | Active TSS | Fetal Heart | heart |
| 2 | chr9:11413200-11413600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 3 | chr9:11413200-11414600 | ZNF genes & repeats | Spleen | Spleen |
| 4 | chr9:11413600-11413800 | Flanking Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 5 | chr9:11413600-11414000 | ZNF genes & repeats | Pancreas | Pancrea |
| 6 | chr9:11414000-11421000 | Weak transcription | Pancreas | Pancrea |
| 7 | chr9:11416800-11418200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 8 | chr9:11417800-11425800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 9 | chr9:11425800-11426000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 10 | chr9:11426200-11426600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 11 | chr9:11426600-11431800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 12 | chr9:11427600-11428800 | Enhancers | Fetal Heart | heart |
| 13 | chr9:11428800-11429200 | Weak transcription | Fetal Heart | heart |
| 14 | chr9:11429200-11429400 | Enhancers | Fetal Heart | heart |
| 15 | chr9:11429400-11432400 | Weak transcription | Fetal Heart | heart |
| 16 | chr9:11431400-11431800 | Enhancers | Fetal Brain Male | brain |
| 17 | chr9:11431600-11431800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 18 | chr9:11431800-11432400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
