Variant report
| Variant | esv3462388 |
|---|---|
| Chromosome Location | chr3:118281529-118281902 |
| 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:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs370425634 | chr3:118281542-118281543 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs561236915 | chr3:118281555-118281556 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs368333731 | chr3:118281604-118281605 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs113023186 | chr3:118281605-118281606 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs199500674 | chr3:118281607-118281608 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs7612565 | chr3:118281667-118281668 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs192792184 | chr3:118281687-118281688 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs533893132 | chr3:118281724-118281725 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs369331867 | chr3:118281778-118281779 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs147969187 | chr3:118281808-118281809 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs201994840 | chr3:118281828-118281829 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| 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 |
| 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 |
| Developmental delay | 22180640 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Characteristic facial feature | 22180640 | CNVD |
| hypoplastic male genitals | 22180640 | CNVD |
| postnatal overgrowth | 22180640 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164920 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Cancer | 20164919 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Cancer | 21272361 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:118268000-118305800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr3:118271800-118291200 | Weak transcription | Pancreas | Pancrea |
| 3 | chr3:118280000-118282600 | Strong transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
