Variant report
| Variant | esv3417839 |
|---|---|
| Chromosome Location | chr6:11593829-11594072 |
| 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 | chr6:11591438..11594542-chr6:11595912..11598544,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs535462479 | chr6:11593834-11593835 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555482179 | chr6:11593848-11593849 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs184182638 | chr6:11593894-11593895 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs187531227 | chr6:11593974-11593975 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs191466481 | chr6:11593980-11593981 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs211510 | chr6:11593985-11593986 | Enhancers Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs182499514 | chr6:11594036-11594037 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs577899511 | chr6:11594046-11594047 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs540115356 | chr6:11594047-11594048 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:98)
| 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 |
| Melanoma | 20688739 | 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:11591400-11596600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr6:11592800-11594800 | Enhancers | Placenta | Placenta |
| 3 | chr6:11592800-11595200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 4 | chr6:11593000-11598600 | Weak transcription | A549 | lung |
| 5 | chr6:11593200-11596000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 6 | chr6:11593200-11597000 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 7 | chr6:11593200-11600800 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 8 | chr6:11593200-11605400 | Weak transcription | Right Atrium | heart |
| 9 | chr6:11593600-11594800 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 10 | chr6:11593600-11595200 | Strong transcription | HSMM | muscle |
| 11 | chr6:11593600-11604600 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 12 | chr6:11593800-11594200 | Weak transcription | HSMMtube | muscle |
| 13 | chr6:11593800-11597600 | Weak transcription | Ovary | ovary |
| 14 | chr6:11593800-11609800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
