Variant report
| Variant | nsv965628 |
|---|---|
| Chromosome Location | chr6:12839700-12840200 |
| 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 | rs532438307 | chr6:12839761-12839762 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs141479817 | chr6:12839884-12839885 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542251902 | chr6:12839911-12839912 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs145391045 | chr6:12839925-12839926 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs187640575 | chr6:12839944-12839945 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs193061798 | chr6:12839963-12839964 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs137936305 | chr6:12839967-12839968 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs185882100 | chr6:12839968-12839969 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs142594971 | chr6:12839976-12839977 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs550659852 | chr6:12839982-12839983 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs114968657 | chr6:12839984-12839985 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs530156590 | chr6:12840013-12840014 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs536523037 | chr6:12840047-12840048 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs188804760 | chr6:12840064-12840065 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs150558314 | chr6:12840068-12840069 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs1412742 | chr6:12840104-12840105 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs371064462 | chr6:12840107-12840108 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs1412743 | chr6:12840112-12840113 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs192520838 | chr6:12840117-12840118 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs183681113 | chr6:12840133-12840134 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs573654921 | chr6:12840137-12840138 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs542664700 | chr6:12840153-12840154 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs551918077 | chr6:12840156-12840157 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:100)
| Disease | PMID | Source |
|---|---|---|
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 20164920 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| 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 |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 21448237 | CNVD |
| Cancer | 20164919 | CNVD |
| Melanoma | 18172304 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | 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 |
| 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 |
| small cell lung cancer | 20016488 | 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 |
| Osteosarcoma | 16790693 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21364760 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:12834200-12839800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr6:12838400-12844800 | Weak transcription | Brain Germinal Matrix | brain |
| 3 | chr6:12838600-12849400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 4 | chr6:12839400-12840000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 5 | chr6:12839400-12840000 | Enhancers | Brain Anterior Caudate | brain |
| 6 | chr6:12839600-12841000 | Enhancers | H1 Cell Line | embryonic stem cell |
| 7 | chr6:12839800-12840400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 8 | chr6:12839800-12841000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 9 | chr6:12840000-12845800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
