Variant report
| Variant | nsv522398 |
|---|---|
| Chromosome Location | chr6:29812030-29812974 |
| 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:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2734989 | chr6:29812643-29812644 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs550618063 | chr6:29812651-29812652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs567124820 | chr6:29812670-29812671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs116248499 | chr6:29812671-29812672 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370349950 | chr6:29812708-29812709 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs573090271 | chr6:29812717-29812718 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs72843667 | chr6:29812727-29812728 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs190231759 | chr6:29812737-29812738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs2523768 | chr6:29812750-29812751 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs72843668 | chr6:29812769-29812770 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs114887824 | chr6:29812775-29812776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs148758442 | chr6:29812797-29812798 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs182450489 | chr6:29812806-29812807 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs2523767 | chr6:29812807-29812808 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 15 | rs2523766 | chr6:29812834-29812835 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 16 | rs375025434 | chr6:29812843-29812844 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs142424880 | chr6:29812859-29812860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs564942793 | chr6:29812863-29812864 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs72843669 | chr6:29812880-29812881 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs72843670 | chr6:29812895-29812896 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs114853934 | chr6:29812896-29812897 | Enhancers | n/a | n/a | Overlapped CNVs | mRNA abundance |
| 22 | rs151321530 | chr6:29812912-29812913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs376681633 | chr6:29812919-29812920 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs368759353 | chr6:29812938-29812939 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs57644190 | chr6:29812956-29812957 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs62392493 | chr6:29812958-29812959 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs2517879 | chr6:29812974-29812975 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:104)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| 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 |
| 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 |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Autism | 21448237 | CNVD |
| Cancer | 20164919 | CNVD |
| Melanoma | 18172304 | CNVD |
| Breast cancer | 22844521 | CNVD |
| HIV/AIDS | 22844521 | CNVD |
| Ovarian cancer | 22844521 | CNVD |
| Prostate cancer | 22844521 | CNVD |
| Psoriasis | 22844521 | CNVD |
| Rheumatoid arthritis | 22844521 | CNVD |
| Sclerosis systemic | 22844521 | CNVD |
| Systemic lupus erythematosus | 22844521 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 21552322 | CNVD |
| Immune disease | 21076436 | CNVD |
| Autoimmune disease | 19135723 | CNVD |
| Systemic lupus erythematosus | 17953491 | CNVD |
| Recurrent Infections | 22737222 | CNVD |
| Systemic lupus erythematosus | 21904924 | CNVD |
| Ependymoma | 19289631 | CNVD |
| Gestational infection | 22844521 | CNVD |
| Head circumference | 22844521 | CNVD |
| Infertility | 22844521 | CNVD |
| Recurrent birth weight diabetes | 22844521 | CNVD |
| Obesity | 22844521 | CNVD |
| Recurrent pregnancy loss | 22844521 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
| Nasopharyngeal cancer | 22815911 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 16790693 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Retinoblastoma | 16790693 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Systemic lupus erythematosus | 17503323 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Cancer | 21183584 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Schizophrenia | 19571809 | CNVD |
| Schizophrenia | 19571808 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Neuroblastoma | 16790693 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| abnormal development | 18461090 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Melanoma | 17363583 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:29812600-29813000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 2 | chr6:29812800-29813200 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
| 3 | chr6:29812800-29813200 | Enhancers | NHEK | skin |
