Variant report
| Variant | esv3451451 |
|---|---|
| Chromosome Location | chr3:102871512-102873710 |
| 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 | rs188478719 | chr3:102873351-102873352 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs114621894 | chr3:102873379-102873380 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542119912 | chr3:102873426-102873427 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs546225253 | chr3:102873427-102873428 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs145731151 | chr3:102873439-102873440 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs563448012 | chr3:102873442-102873443 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs193142626 | chr3:102873446-102873447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs183172600 | chr3:102873449-102873450 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs558172256 | chr3:102873457-102873458 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs565378826 | chr3:102873471-102873472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs116653475 | chr3:102873475-102873476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs547569803 | chr3:102873581-102873582 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs147061357 | chr3:102873615-102873616 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs530252789 | chr3:102873623-102873624 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs548822345 | chr3:102873649-102873650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs138346894 | chr3:102873657-102873658 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs2168759 | chr3:102873666-102873667 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs537045796 | chr3:102873691-102873692 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs551925760 | chr3:102873701-102873702 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs570509641 | chr3:102873706-102873707 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| Myelofibrosis | 22110671 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:102873200-102874600 | Enhancers | Fetal Brain Male | brain |
