Variant report
| Variant | esv3400624 |
|---|---|
| Chromosome Location | chr3:109327521-109327965 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs186562339 | chr3:109327525-109327526 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs574952721 | chr3:109327530-109327531 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs138023768 | chr3:109327532-109327533 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs563884716 | chr3:109327576-109327577 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs367631995 | chr3:109327579-109327580 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs200484104 | chr3:109327593-109327594 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs532958781 | chr3:109327602-109327603 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs557792086 | chr3:109327690-109327691 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs567405276 | chr3:109327720-109327721 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs191749526 | chr3:109327731-109327732 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs560151033 | chr3:109327735-109327736 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs376218089 | chr3:109327739-109327740 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs536617720 | chr3:109327740-109327741 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs77382645 | chr3:109327743-109327744 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs375761535 | chr3:109327766-109327767 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs571412665 | chr3:109327773-109327774 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs568476318 | chr3:109327833-109327834 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs530969441 | chr3:109327855-109327856 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs551093136 | chr3:109327870-109327871 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs570954437 | chr3:109327874-109327875 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs116748666 | chr3:109327875-109327876 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs553547758 | chr3:109327880-109327881 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs567025148 | chr3:109327963-109327964 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:109326400-109328400 | Enhancers | Dnd41 | blood |
| 2 | chr3:109327400-109331600 | Weak transcription | Primary hematopoietic stem cells | blood |
