Variant report
| Variant | esv3415104 |
|---|---|
| Chromosome Location | chr3:180075481-180075756 |
| 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 | rs562337321 | chr3:180075481-180075482 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs73044348 | chr3:180075549-180075550 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs547651133 | chr3:180075581-180075582 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs191620971 | chr3:180075595-180075596 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs73044349 | chr3:180075606-180075607 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs73044350 | chr3:180075615-180075616 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs542145698 | chr3:180075620-180075621 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs570054721 | chr3:180075642-180075643 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs184380404 | chr3:180075650-180075651 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs139546843 | chr3:180075670-180075671 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs565619022 | chr3:180075675-180075676 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs73883829 | chr3:180075685-180075686 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs189410975 | chr3:180075705-180075706 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:71)
| 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 |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 17133270 | CNVD |
| epilepsy | 18472482 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Parkinson disease | 21907011 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Anaplastic thyroid cancer | 17989125 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Ovarian cancer | 18208621 | CNVD |
| Thyroid cancer | 17317825 | CNVD |
| Thyroid cancer | 17989125 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 16751803 | CNVD |
| abnormal development | 18461090 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Autism | 19653912 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Adenocarcinoma | 19607727 | CNVD |
| Squamous cell cancer | 19607727 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164920 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:180064800-180075800 | Weak transcription | HMEC | breast |
| 2 | chr3:180075000-180076800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 3 | chr3:180075000-180076800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr3:180075600-180076600 | Enhancers | Pancreas | Pancrea |
| 5 | chr3:180075600-180076800 | Enhancers | Fetal Brain Female | brain |
| 6 | chr3:180075600-180078200 | Enhancers | Fetal Brain Male | brain |
