Variant report
| Variant | esv3412703 |
|---|---|
| Chromosome Location | chr3:111047168-111047564 |
| 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:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2950970 | chr3:111047225-111047226 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs191728462 | chr3:111047282-111047283 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs561111644 | chr3:111047292-111047293 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs529992433 | chr3:111047319-111047320 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs550116133 | chr3:111047331-111047332 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569644682 | chr3:111047339-111047340 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs532016589 | chr3:111047350-111047351 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs551163628 | chr3:111047439-111047440 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs181287976 | chr3:111047532-111047533 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | 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 |
| 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 |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Developmental delay | 22180640 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:111041600-111047200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr3:111043800-111052200 | Weak transcription | HMEC | breast |
| 3 | chr3:111045200-111050800 | Weak transcription | Fetal Thymus | thymus |
| 4 | chr3:111045400-111051600 | Weak transcription | HSMM | muscle |
| 5 | chr3:111045800-111054400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 6 | chr3:111046800-111047600 | Enhancers | Dnd41 | blood |
| 7 | chr3:111047200-111047400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 8 | chr3:111047400-111048200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
