Variant report
| Variant | esv3333489 |
|---|---|
| Chromosome Location | chr9:15405152-15408850 |
| 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 |
Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2488960 | chr9:15408003-15408004 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs571229552 | chr9:15408096-15408097 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542693845 | chr9:15408098-15408099 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs199579888 | chr9:15408099-15408100 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs371178527 | chr9:15408101-15408102 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs374115237 | chr9:15408114-15408115 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs76461646 | chr9:15408150-15408151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs2490867 | chr9:15408162-15408163 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs536055159 | chr9:15408231-15408232 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs544912240 | chr9:15408287-15408288 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs564703028 | chr9:15408302-15408303 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs181247127 | chr9:15408327-15408328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs369773492 | chr9:15408346-15408347 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs73413231 | chr9:15408370-15408371 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs143803338 | chr9:15408381-15408382 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs191022741 | chr9:15408382-15408383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs73413235 | chr9:15408413-15408414 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs376970316 | chr9:15408442-15408443 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs541551402 | chr9:15408443-15408444 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs146351291 | chr9:15408454-15408455 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs550237714 | chr9:15408464-15408465 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs10962022 | chr9:15408475-15408476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs542063251 | chr9:15408534-15408535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs563832688 | chr9:15408541-15408542 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs114370771 | chr9:15408553-15408554 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs552876935 | chr9:15408658-15408659 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs7041424 | chr9:15408664-15408665 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs532001815 | chr9:15408713-15408714 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs547516077 | chr9:15408721-15408722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs370285428 | chr9:15408734-15408735 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs565641493 | chr9:15408745-15408746 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs184072955 | chr9:15408758-15408759 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:86)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| abnormal development | 18461090 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Prostate cancer | 16573809 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pilocytic astrocytoma | 18670637 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Melanoma | 22183965 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Glycine encephalopathy | 21572526 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 19835627 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:15408000-15408800 | Enhancers | HepG2 | liver |
