Variant report
| Variant | esv18408 |
|---|---|
| Chromosome Location | chr6:58566256-58591434 |
| 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 | rs549695531 | chr6:58591012-58591013 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs373144251 | chr6:58591034-58591035 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs567839184 | chr6:58591056-58591057 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs375742000 | chr6:58591063-58591064 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs537234032 | chr6:58591074-58591075 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs550222321 | chr6:58591080-58591081 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs72870557 | chr6:58591086-58591087 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | mRNA abundance |
| 8 | rs370930241 | chr6:58591089-58591090 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs186719928 | chr6:58591103-58591104 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs374553821 | chr6:58591114-58591115 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs573040469 | chr6:58591118-58591119 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs149017061 | chr6:58591126-58591127 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs73756130 | chr6:58591155-58591156 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs572249057 | chr6:58591158-58591159 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs71568741 | chr6:58591184-58591185 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs573868111 | chr6:58591210-58591211 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs9500346 | chr6:58591250-58591251 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 18 | rs562147853 | chr6:58591257-58591258 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs577177369 | chr6:58591270-58591271 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs192077485 | chr6:58591277-58591278 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs559984638 | chr6:58591315-58591316 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs182596778 | chr6:58591359-58591360 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs9377821 | chr6:58591398-58591399 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| Leukemia | 21518781 | CNVD |
| Cancer | 21637783 | CNVD |
| Facial dysmorphism | 22105932 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Malaria | 21533027 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 21448237 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 22495311 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Neuroblastoma | 16790693 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Systemic lupus erythematosus | 17503323 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Non-syndromic sensorineural hearing loss | 17431168 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:58591000-58591400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
