Variant report
| Variant | esv3450059 |
|---|---|
| Chromosome Location | chr6:49972043-49974241 |
| 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 | chr6:49972260..49974048-chr6:49980191..49981911,2 | 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 | rs555098196 | chr6:49973601-49973602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs370186043 | chr6:49973649-49973650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs74854924 | chr6:49973730-49973731 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs566562514 | chr6:49973883-49973884 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs12197351 | chr6:49973896-49973897 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs558680342 | chr6:49973940-49973941 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs575366566 | chr6:49973944-49973945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs544446223 | chr6:49973950-49973951 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs188662538 | chr6:49973965-49973966 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563763362 | chr6:49973981-49973982 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs554886630 | chr6:49974007-49974008 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs532505260 | chr6:49974026-49974027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs191522504 | chr6:49974038-49974039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs540625263 | chr6:49974093-49974094 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs560288981 | chr6:49974116-49974117 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs144585382 | chr6:49974153-49974154 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs184054276 | chr6:49974232-49974233 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| 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 |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 21448237 | CNVD |
| Melanoma | 18172304 | 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 |
| Urothelial carcinoma | 18382360 | CNVD |
| Cancer | 21183584 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Neuroblastoma | 16790693 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Osteosarcoma | 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 |
| Lung cancer | 18438408 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Osteosarcoma | 21197465 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Follicular lymphoma | 16790693 | CNVD |
| Osteosarcoma | 19286668 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Systemic lupus erythematosus | 17503323 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Heart disease | 21282601 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Neuroblastoma | 19686582 | CNVD |
| Neuroblastoma | 17289879 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Hypoplastic left heart syndrome | 22349727 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:49973600-49976400 | Enhancers | Hela-S3 | cervix |
