Variant report
| Variant | esv3428736 |
|---|---|
| Chromosome Location | chr3:102449900-102450425 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs542926098 | chr3:102449916-102449917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs560986339 | chr3:102449920-102449921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs531537572 | chr3:102449924-102449925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs549706924 | chr3:102449948-102449949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs565032168 | chr3:102449989-102449990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs138463670 | chr3:102450031-102450032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201226520 | chr3:102450094-102450095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs553995082 | chr3:102450112-102450113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs547017060 | chr3:102450201-102450202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs149641679 | chr3:102450216-102450217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs535809539 | chr3:102450226-102450227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs78252278 | chr3:102450227-102450228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs1498085 | chr3:102450240-102450241 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs1498086 | chr3:102450323-102450324 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 15 | rs558872775 | chr3:102450334-102450335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs577444410 | chr3:102450340-102450341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs183996141 | chr3:102450349-102450350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs28499500 | chr3:102450363-102450364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs553471187 | chr3:102450368-102450369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs115383966 | chr3:102450392-102450393 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs541811968 | chr3:102450413-102450414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | 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 |
| 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 |
| small cell lung cancer | 20016488 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:102446600-102452200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr3:102448400-102452200 | Weak transcription | Fetal Heart | heart |
