Variant report
| Variant | esv3343983 |
|---|---|
| Chromosome Location | chr3:95012109-95012550 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs111366631 | chr3:95012123-95012124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs570674634 | chr3:95012137-95012138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs477121 | chr3:95012143-95012144 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs138335762 | chr3:95012177-95012178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs542974077 | chr3:95012197-95012198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs559386004 | chr3:95012214-95012215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs537185405 | chr3:95012267-95012268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs550990350 | chr3:95012269-95012270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs368227291 | chr3:95012299-95012300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs138276963 | chr3:95012300-95012301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs183627103 | chr3:95012339-95012340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs484543 | chr3:95012360-95012361 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 13 | rs530494706 | chr3:95012363-95012364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs7619484 | chr3:95012379-95012380 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 15 | rs140606563 | chr3:95012447-95012448 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs73850036 | chr3:95012471-95012472 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs149521089 | chr3:95012477-95012478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs138994433 | chr3:95012490-95012491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs9834958 | chr3:95012506-95012507 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs16855730 | chr3:95012526-95012527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| 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 |
| Autism | 20531469 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:95008800-95012200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr3:95009200-95020000 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
