Variant report
| Variant | esv3435192 |
|---|---|
| Chromosome Location | chr3:102772669-102773172 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs564381745 | chr3:102772690-102772691 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs561957723 | chr3:102772693-102772694 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs528420988 | chr3:102772696-102772697 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs547759336 | chr3:102772716-102772717 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs565948487 | chr3:102772779-102772780 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs530106745 | chr3:102772808-102772809 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs548293074 | chr3:102772885-102772886 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs346890 | chr3:102772946-102772947 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs537226733 | chr3:102772953-102772954 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs558934126 | chr3:102772959-102772960 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs149747229 | chr3:102772967-102772968 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs374986295 | chr3:102772976-102772977 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs571117507 | chr3:102773022-102773023 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs535019451 | chr3:102773028-102773029 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs552889733 | chr3:102773042-102773043 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs367642850 | chr3:102773101-102773102 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs541909520 | chr3:102773121-102773122 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs557075334 | chr3:102773154-102773155 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:102769800-102773000 | Enhancers | Primary monocytes fromperipheralblood | blood |
| 2 | chr3:102771000-102775600 | Enhancers | Fetal Intestine Small | intestine |
| 3 | chr3:102772200-102773200 | Weak transcription | Fetal Intestine Large | intestine |
| 4 | chr3:102772200-102773600 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 5 | chr3:102772200-102774000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 6 | chr3:102772200-102774200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 7 | chr3:102772200-102775200 | Weak transcription | Adipose Nuclei | Adipose |
| 8 | chr3:102772200-102775600 | Weak transcription | Duodenum Mucosa | Duodenum |
| 9 | chr3:102772200-102775600 | Weak transcription | Fetal Muscle Leg | muscle |
| 10 | chr3:102772200-102775800 | Weak transcription | Small Intestine | intestine |
