Variant report
| Variant | esv3421800 |
|---|---|
| Chromosome Location | chr9:8917752-8921950 |
| 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:47 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs73422057 | chr9:8917752-8917753 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs183216921 | chr9:8917768-8917769 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs377331798 | chr9:8917863-8917864 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs113278281 | chr9:8917864-8917865 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556832672 | chr9:8917902-8917903 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs12552175 | chr9:8917917-8917918 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs542562560 | chr9:8917961-8917962 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs560733703 | chr9:8917962-8917963 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs187539586 | chr9:8917971-8917972 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs545923132 | chr9:8918027-8918028 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs190530491 | chr9:8918045-8918046 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs117736578 | chr9:8918058-8918059 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs549839315 | chr9:8918088-8918089 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs139540028 | chr9:8918102-8918103 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs547390530 | chr9:8918117-8918118 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs529018799 | chr9:8918118-8918119 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs547297243 | chr9:8918124-8918125 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs565791828 | chr9:8918125-8918126 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs144192048 | chr9:8918216-8918217 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs151073390 | chr9:8918225-8918226 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs79090690 | chr9:8918228-8918229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs182757093 | chr9:8918269-8918270 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs140987554 | chr9:8918275-8918276 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs12335529 | chr9:8918295-8918296 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs576206002 | chr9:8918309-8918310 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs575102492 | chr9:8918345-8918346 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs72706221 | chr9:8918390-8918391 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs375852260 | chr9:8918411-8918412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs555251769 | chr9:8918430-8918431 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs554403593 | chr9:8918436-8918437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs377274679 | chr9:8918472-8918473 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs571974196 | chr9:8918480-8918481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs188075617 | chr9:8918481-8918482 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs546461241 | chr9:8918499-8918500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs564351367 | chr9:8918507-8918508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs149785236 | chr9:8918521-8918522 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs145816921 | chr9:8918552-8918553 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs543523402 | chr9:8918571-8918572 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs540252840 | chr9:8918592-8918593 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs529054738 | chr9:8918616-8918617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs547238904 | chr9:8918617-8918618 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs74415066 | chr9:8918636-8918637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs533112840 | chr9:8918698-8918699 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs141714315 | chr9:8918742-8918743 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs192873196 | chr9:8918751-8918752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs537010309 | chr9:8918769-8918770 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs549111117 | chr9:8918797-8918798 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:112)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Chronic lymphocytic leukemia | 21546498 | 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 |
| XY gonadal dysgenesis | 20685758 | 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 |
| 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 |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Cancer | 20164920 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Schizophrenia | 20838587 | CNVD |
| Glioblastoma | 18772890 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 20858261 | CNVD |
| Epilepsy | 20858261 | CNVD |
| Mental retardation | 20858261 | CNVD |
| Developmental delay | 21147756 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:8913800-8918400 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 2 | chr9:8915600-8918200 | Enhancers | Brain Cingulate Gyrus | brain |
| 3 | chr9:8916800-8917800 | Weak transcription | Brain Anterior Caudate | brain |
| 4 | chr9:8916800-8917800 | Weak transcription | Brain Substantia Nigra | brain |
| 5 | chr9:8916800-8918200 | Weak transcription | Brain Angular Gyrus | brain |
| 6 | chr9:8917000-8918800 | Enhancers | Dnd41 | blood |
| 7 | chr9:8917200-8918400 | Enhancers | Brain Hippocampus Middle | brain |
| 8 | chr9:8917200-8918400 | Enhancers | Fetal Thymus | thymus |
| 9 | chr9:8917600-8918200 | Enhancers | Primary T cells from cord blood | blood |
| 10 | chr9:8917800-8918200 | Enhancers | Brain Anterior Caudate | brain |
| 11 | chr9:8917800-8918200 | Enhancers | Brain Substantia Nigra | brain |
| 12 | chr9:8918000-8918200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 13 | chr9:8918200-8918400 | Enhancers | Brain Angular Gyrus | brain |
