Variant report
| Variant | esv3387836 |
|---|---|
| Chromosome Location | chr6:11952094-11952487 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:11951980..11954338-chr6:12006413..12008901,2 | K562 | blood: | |
| 2 | chr6:11945990..11949036-chr6:11950804..11953646,3 | K562 | blood: | |
| 3 | chr6:11947667..11952221-chr6:12010159..12014739,5 | K562 | blood: | |
| 4 | chr6:11943808..11945567-chr6:11950046..11952634,2 | K562 | blood: | |
| 5 | chr6:11951766..11953426-chr6:11954045..11956144,3 | K562 | blood: | |
| 6 | chr6:11947667..11952733-chr6:12010159..12014739,6 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000229896 | chromatin interactions |
| ENSG00000095951 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:10 , 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 | rs377286670 | chr6:11952131-11952132 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs16872104 | chr6:11952175-11952176 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs568237437 | chr6:11952190-11952191 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 4 | rs146009099 | chr6:11952201-11952202 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 5 | rs148664327 | chr6:11952216-11952217 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 6 | rs550794008 | chr6:11952219-11952220 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 7 | rs570933385 | chr6:11952272-11952273 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 8 | rs540170948 | chr6:11952314-11952315 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 9 | rs186929422 | chr6:11952400-11952401 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 10 | rs567114978 | chr6:11952465-11952466 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:99)
| 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 |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:11951600-11953600 | Weak transcription | K562 | blood |
| 2 | chr6:11952000-11953000 | Enhancers | NHDF-Ad | bronchial |
| 3 | chr6:11952000-11954200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 4 | chr6:11952200-11953200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 5 | chr6:11952200-11953200 | Enhancers | Osteobl | bone |
| 6 | chr6:11952200-11953400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
