Variant report
| Variant | esv3450929 |
|---|---|
| Chromosome Location | chr9:17782742-17783097 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs370696563 | chr9:17782757-17782758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs10756912 | chr9:17782771-17782772 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs78988244 | chr9:17782811-17782812 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs35994958 | chr9:17782814-17782815 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs183145250 | chr9:17782848-17782849 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs542276902 | chr9:17782865-17782866 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs563511463 | chr9:17782866-17782867 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs575733916 | chr9:17782869-17782870 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs147996349 | chr9:17782870-17782871 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs75348795 | chr9:17782892-17782893 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs111271859 | chr9:17782895-17782896 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs141708204 | chr9:17782910-17782911 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs372342170 | chr9:17782919-17782920 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs562081860 | chr9:17782936-17782937 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs77750366 | chr9:17782943-17782944 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs550595237 | chr9:17782959-17782960 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs538663896 | chr9:17782968-17782969 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs552590993 | chr9:17782969-17782970 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs74995507 | chr9:17782979-17782980 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs9406728 | chr9:17783011-17783012 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs551141140 | chr9:17783042-17783043 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs566692991 | chr9:17783066-17783067 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs571163164 | chr9:17783070-17783071 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs533938996 | chr9:17783085-17783086 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:90)
| 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 |
| 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 |
| Metanephric adenoma | 20802469 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Pilocytic astrocytoma | 18670637 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Melanoma | 22183965 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glycine encephalopathy | 21572526 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 22183965 | CNVD |
| Lung adenocarcinoma | 21935476 | CNVD |
| Thoracic aortic aneurysm | 21698135 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Autism | 20858261 | CNVD |
| Epilepsy | 20858261 | CNVD |
| Mental retardation | 20858261 | CNVD |
| Ovarian cancer | 19835627 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:17764600-17782800 | Weak transcription | Gastric | stomach |
| 2 | chr9:17776800-17786200 | Weak transcription | Fetal Brain Male | brain |
| 3 | chr9:17778800-17784000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 4 | chr9:17780200-17787200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr9:17782800-17783000 | Enhancers | Gastric | stomach |
| 6 | chr9:17782800-17783400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 7 | chr9:17783000-17783600 | Enhancers | Duodenum Smooth Muscle | Duodenum |
| 8 | chr9:17783000-17784000 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
