Variant report
| Variant | nsv822192 |
|---|---|
| Chromosome Location | chr3:99289359-99289994 |
| 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 | rs188396916 | chr3:99289406-99289407 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs56263521 | chr3:99289415-99289416 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs538507760 | chr3:99289433-99289434 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs71916007 | chr3:99289444-99289445 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs59188413 | chr3:99289461-99289462 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs58196287 | chr3:99289510-99289511 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs147105309 | chr3:99289533-99289534 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542596491 | chr3:99289536-99289537 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs560974221 | chr3:99289547-99289548 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs576455854 | chr3:99289656-99289657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs138492943 | chr3:99289676-99289677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs565298058 | chr3:99289709-99289710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs532744410 | chr3:99289731-99289732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs4594655 | chr3:99289804-99289805 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs570359225 | chr3:99289808-99289809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs142149733 | chr3:99289815-99289816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs137881236 | chr3:99289817-99289818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs115763179 | chr3:99289883-99289884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs4413343 | chr3:99289938-99289939 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs548980440 | chr3:99289964-99289965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| 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 |
| Myelofibrosis | 22110671 | CNVD |
| Epilepsy | 21858020 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:99283000-99293800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr3:99286800-99289600 | Enhancers | HSMM | muscle |
| 3 | chr3:99287200-99289600 | Enhancers | Muscle Satellite Cultured Cells | -- |
| 4 | chr3:99287800-99289600 | Enhancers | HSMMtube | muscle |
| 5 | chr3:99289000-99289600 | Enhancers | HUVEC | blood vessel |
