Variant report
| Variant | esv3410999 |
|---|---|
| Chromosome Location | chr3:94979773-94980631 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:94979836..94981879-chr3:94985858..94987938,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs144071888 | chr3:94980024-94980025 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs180796545 | chr3:94980077-94980078 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs9867279 | chr3:94980118-94980119 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs144250426 | chr3:94980122-94980123 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs569295203 | chr3:94980158-94980159 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs55872362 | chr3:94980169-94980170 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs113286333 | chr3:94980208-94980209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs548777561 | chr3:94980230-94980231 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs148302410 | chr3:94980250-94980251 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs575733128 | chr3:94980290-94980291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs543009691 | chr3:94980362-94980363 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs188651056 | chr3:94980459-94980460 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs558372132 | chr3:94980492-94980493 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs530950304 | chr3:94980502-94980503 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs181312105 | chr3:94980504-94980505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs114736555 | chr3:94980510-94980511 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs557424519 | chr3:94980557-94980558 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs573916366 | chr3:94980613-94980614 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs200584110 | chr3:94980621-94980622 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs147613056 | chr3:94980622-94980623 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs5850978 | chr3:94980623-94980624 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs377348792 | chr3:94980624-94980625 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs370341837 | chr3:94980626-94980627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Acute myeloid leukemia | 20729466 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Cancer | 20164920 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Epilepsy | 21858020 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:94980000-94980800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
