Variant report
| Variant | esv3405581 |
|---|---|
| Chromosome Location | chr3:109652851-109653387 |
| 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 | rs529649362 | chr3:109652912-109652913 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs142422617 | chr3:109652918-109652919 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs146432207 | chr3:109652921-109652922 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs642142 | chr3:109652923-109652924 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs139010584 | chr3:109652927-109652928 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs534814646 | chr3:109652971-109652972 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs142967189 | chr3:109653006-109653007 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs73851048 | chr3:109653024-109653025 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs12635802 | chr3:109653115-109653116 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs556309359 | chr3:109653136-109653137 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs79647030 | chr3:109653181-109653182 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs369926976 | chr3:109653186-109653187 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs2700237 | chr3:109653287-109653288 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 14 | rs150908529 | chr3:109653305-109653306 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs114001735 | chr3:109653317-109653318 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs13090723 | chr3:109653365-109653366 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs73217683 | chr3:109653368-109653369 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs13090733 | chr3:109653375-109653376 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| 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 |
| 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 |
| Breast cancer | 16608533 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Developmental delay | 22180640 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:109647000-109656000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr3:109651400-109654800 | Weak transcription | A549 | lung |
| 3 | chr3:109652800-109653800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 4 | chr3:109653200-109653800 | Enhancers | Brain Germinal Matrix | brain |
