Variant report
| Variant | esv3494300 |
|---|---|
| Chromosome Location | chr10:53828612-53828848 |
| 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:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs11000680 | chr10:53828621-53828622 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs543176831 | chr10:53828644-53828645 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs559810090 | chr10:53828650-53828651 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs528715232 | chr10:53828656-53828657 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11000681 | chr10:53828658-53828659 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs564979073 | chr10:53828678-53828679 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs182950761 | chr10:53828698-53828699 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs142050058 | chr10:53828701-53828702 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs377245721 | chr10:53828730-53828731 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs57368604 | chr10:53828751-53828752 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs567723933 | chr10:53828755-53828756 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs143169858 | chr10:53828807-53828808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs72803121 | chr10:53828821-53828822 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 18414403 | CNVD |
| Cockayne syndrome | 18421352 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Glioma | 21971842 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Obesity | 21956041 | CNVD |
| Developmental delay | 21948486 | CNVD |
| Dysmorphic features | 21948486 | CNVD |
| Epilepsy | 21948486 | CNVD |
| Intellectual disability | 21948486 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Autism | 20841430 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Epilepsy | 20923578 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Schizophrenia | 19329560 | CNVD |
| Heart failure | 18772530 | CNVD |
| Heart failure | 18854381 | CNVD |
| Hyperglycemia | 19060297 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Usher syndrome | 20538994 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:53814400-53842800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr10:53817400-53830000 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 3 | chr10:53824000-53838200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 4 | chr10:53824200-53830200 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 5 | chr10:53824200-53835200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 6 | chr10:53824400-53846200 | Weak transcription | Aorta | Aorta |
| 7 | chr10:53824800-53831000 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
| 8 | chr10:53824800-53833000 | Weak transcription | Psoas Muscle | Psoas |
| 9 | chr10:53825200-53830600 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
| 10 | chr10:53828600-53828800 | Enhancers | Lung | lung |
