Variant report
| Variant | esv3392840 |
|---|---|
| Chromosome Location | chr10:57278971-57281344 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs200851196 | chr10:57279045-57279046 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs386371438 | chr10:57279059-57279060 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs397956142 | chr10:57279060-57279061 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs202055202 | chr10:57279061-57279062 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs200280576 | chr10:57279063-57279064 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs183926236 | chr10:57279140-57279141 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs374301976 | chr10:57279141-57279142 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs2184372 | chr10:57279153-57279154 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 9 | rs546483615 | chr10:57279171-57279172 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs187711446 | chr10:57279178-57279179 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs564388921 | chr10:57279224-57279225 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs73253106 | chr10:57279226-57279227 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs571287940 | chr10:57279288-57279289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs537128116 | chr10:57279321-57279322 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs76555453 | chr10:57279347-57279348 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs570254146 | chr10:57279354-57279355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs536018507 | chr10:57279382-57279383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs142008253 | chr10:57279383-57279384 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs531999209 | chr10:57279475-57279476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs572752108 | chr10:57279477-57279478 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs183671509 | chr10:57279480-57279481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs71014499 | chr10:57279496-57279497 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs398013550 | chr10:57279505-57279506 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| Obesity | 21956041 | 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 |
| Autism | 20858243 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 20164919 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:57278200-57279200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 2 | chr10:57278200-57279600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 3 | chr10:57278800-57279400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr10:57279200-57279600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
