Variant report
| Variant | esv3383532 |
|---|---|
| Chromosome Location | chr9:17807750-17808225 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs556085014 | chr9:17807782-17807783 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs539996788 | chr9:17807793-17807794 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs553225789 | chr9:17807893-17807894 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs140432647 | chr9:17807927-17807928 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370354556 | chr9:17807930-17807931 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs374361475 | chr9:17807943-17807944 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs545801247 | chr9:17807950-17807951 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs114999828 | chr9:17807969-17807970 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs577948695 | chr9:17807977-17807978 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540398046 | chr9:17808034-17808035 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs145352945 | chr9:17808051-17808052 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs375838691 | chr9:17808056-17808057 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs35728688 | chr9:17808106-17808107 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs547207716 | chr9:17808131-17808132 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs559918787 | chr9:17808149-17808150 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs555827659 | chr9:17808158-17808159 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs147630194 | chr9:17808173-17808174 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs551418753 | chr9:17808183-17808184 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs574288082 | chr9:17808188-17808189 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs142309245 | chr9:17808201-17808202 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs145938437 | chr9:17808209-17808210 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| 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 |
| Ovarian cancer | 19835627 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:17796000-17812000 | Weak transcription | Aorta | Aorta |
| 2 | chr9:17806800-17809800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 3 | chr9:17807200-17809600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr9:17807400-17807800 | Enhancers | Fetal Intestine Small | intestine |
| 5 | chr9:17807400-17808400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 6 | chr9:17807400-17808400 | Enhancers | Liver | Liver |
| 7 | chr9:17807600-17808000 | Enhancers | Pancreas | Pancrea |
| 8 | chr9:17807600-17808200 | Enhancers | Fetal Brain Female | brain |
| 9 | chr9:17807600-17808200 | Enhancers | HepG2 | liver |
| 10 | chr9:17807800-17808200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 11 | chr9:17808200-17810800 | Weak transcription | Fetal Brain Female | brain |
