Variant report
| Variant | esv2760737 |
|---|---|
| Chromosome Location | chr3:144283043-144287715 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs573447713 | chr3:144283046-144283047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs76339495 | chr3:144283058-144283059 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs138777683 | chr3:144283059-144283060 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs372550186 | chr3:144283092-144283093 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs527796381 | chr3:144283095-144283096 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs548848727 | chr3:144283124-144283125 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs77112428 | chr3:144283164-144283165 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs35871428 | chr3:144283184-144283185 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs73012753 | chr3:144283201-144283202 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs141460481 | chr3:144283205-144283206 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs568560295 | chr3:144283231-144283232 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs529368694 | chr3:144283287-144283288 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs73012756 | chr3:144283302-144283303 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs61641065 | chr3:144283333-144283334 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs539462185 | chr3:144283338-144283339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs377525788 | chr3:144283346-144283347 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs191867895 | chr3:144283382-144283383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs570041019 | chr3:144283387-144283388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs147001029 | chr3:144283389-144283390 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs555580102 | chr3:144283435-144283436 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs573904693 | chr3:144283493-144283494 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs35122629 | chr3:144283504-144283505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs546294426 | chr3:144283542-144283543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs138192275 | chr3:144283556-144283557 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| 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 |
| 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 |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 18645599 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Blepharophimosis-ptosis-epicanthus inversus syndrome | 22067867 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| abnormal development | 18461090 | CNVD |
| Cancer | 21129771 | CNVD |
| Ovarian cancer | 23621864 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:144282600-144283600 | Enhancers | HUVEC | blood vessel |
| 2 | chr3:144282800-144283400 | Enhancers | Muscle Satellite Cultured Cells | -- |
| 3 | chr3:144282800-144283400 | Enhancers | Skeletal Muscle Male | skeletal muscle |
