Variant report
| Variant | nsv523154 |
|---|---|
| Chromosome Location | chr4:79947170-79949076 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:79944609..79947579-chr4:79951684..79954668,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs286479 | chr4:79947170-79947171 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs191820493 | chr4:79947252-79947253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs559895713 | chr4:79947260-79947261 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs573415731 | chr4:79947271-79947272 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs115944932 | chr4:79947272-79947273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs145312748 | chr4:79947282-79947283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs77353839 | chr4:79947296-79947297 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs17003579 | chr4:79947321-79947322 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 9 | rs539169991 | chr4:79947323-79947324 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs11723402 | chr4:79947348-79947349 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs137889388 | chr4:79947354-79947355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs531200327 | chr4:79947355-79947356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs557263466 | chr4:79947378-79947379 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs79293536 | chr4:79947405-79947406 | Enhancers | n/a | n/a | Overlapped CNVs | mRNA abundance |
| 15 | rs140471583 | chr4:79947428-79947429 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs114344747 | chr4:79947491-79947492 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs71612964 | chr4:79947506-79947507 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:77)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Parkinson disease | 21956041 | CNVD |
| Mental retardation | 20522426 | CNVD |
| delayed speech | 20522426 | CNVD |
| growth disorder | 20522426 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Parkinson disease | 18923514 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| 4q-syndrome | 17576883 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Muscular dystrophy | 21149563 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Lung cancer | 19208797 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Autism | 18414403 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:79946200-79947200 | Enhancers | Stomach Mucosa | stomach |
| 2 | chr4:79947000-79947600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
