Variant report
| Variant | esv2585232 |
|---|---|
| Chromosome Location | chr9:8111329-8112768 |
| 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 | rs190915853 | chr9:8111368-8111369 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs540353447 | chr9:8111369-8111370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs368663422 | chr9:8111393-8111394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs559218661 | chr9:8111417-8111418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs140569959 | chr9:8111450-8111451 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs145351260 | chr9:8111454-8111455 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs569834950 | chr9:8111459-8111460 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs531685586 | chr9:8111468-8111469 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs550264835 | chr9:8111471-8111472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs117716784 | chr9:8111478-8111479 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs34136066 | chr9:8111485-8111486 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs554258462 | chr9:8111491-8111492 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113029744 | chr9:8111536-8111537 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs12335583 | chr9:8111541-8111542 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs145192395 | chr9:8111556-8111557 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs183079904 | chr9:8111562-8111563 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs2224578 | chr9:8111577-8111578 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs559424517 | chr9:8111580-8111581 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs543687923 | chr9:8111590-8111591 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs555416102 | chr9:8111628-8111629 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs562687184 | chr9:8111630-8111631 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs187378611 | chr9:8111647-8111648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs540614179 | chr9:8111677-8111678 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs530912314 | chr9:8111686-8111687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs550595776 | chr9:8111732-8111733 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs567337380 | chr9:8111761-8111762 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs553377971 | chr9:8111791-8111792 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs536318012 | chr9:8111824-8111825 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs533011216 | chr9:8111833-8111834 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs546690833 | chr9:8111890-8111891 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs372211989 | chr9:8111899-8111900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs544922752 | chr9:8111901-8111902 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs191781892 | chr9:8111912-8111913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs530716597 | chr9:8112048-8112049 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs149175725 | chr9:8112065-8112066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs568537689 | chr9:8112068-8112069 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs61302790 | chr9:8112076-8112077 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs151306912 | chr9:8112080-8112081 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs369874123 | chr9:8112101-8112102 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs567012966 | chr9:8112128-8112129 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs566085135 | chr9:8112174-8112175 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs73406340 | chr9:8112181-8112182 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 43 | rs183254856 | chr9:8112190-8112191 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs140560874 | chr9:8112210-8112211 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs145758403 | chr9:8112217-8112218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs555721242 | chr9:8112223-8112224 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs374854813 | chr9:8112241-8112242 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs377014822 | chr9:8112250-8112251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs573360344 | chr9:8112314-8112315 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs540729806 | chr9:8112335-8112336 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:99)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Disorders of sex development | 22290220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-small cell lung cancer | 21952639 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| abnormal development | 18461090 | 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 |
| 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 |
| Developmental delay | 21147756 | 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 |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Glioblastoma | 19074898 | CNVD |
| Malignant melanoma | 19074898 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Cancer | 20164920 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:8111000-8112400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr9:8111200-8112200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr9:8111200-8112200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr9:8111400-8112400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 5 | chr9:8111400-8113200 | Enhancers | Stomach Mucosa | stomach |
| 6 | chr9:8111600-8112200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 7 | chr9:8111800-8112400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 8 | chr9:8111800-8112600 | Enhancers | Fetal Heart | heart |
