Variant report
| Variant | esv17500 |
|---|---|
| Chromosome Location | chr6:58477845-58486488 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:13)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:13 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr6:58477972-58478011 | GM13976 | blood: | n/a | n/a |
| 2 | CTCF | chr6:58483898-58483942 | Spleen_OC | spleen: | n/a | n/a |
| 3 | CTCF | chr6:58483524-58483602 | LNCaP | prostate: | n/a | n/a |
| 4 | CTCF | chr6:58483946-58483953 | Spleen_OC | spleen: | n/a | n/a |
| 5 | CTCF | chr6:58484072-58484179 | NHEK | skin: | n/a | n/a |
| 6 | CTCF | chr6:58481989-58482053 | GM10248 | blood: | n/a | n/a |
| 7 | CTCF | chr6:58484138-58484189 | MCF-7 | breast: | n/a | n/a |
| 8 | MYC | chr6:58485060-58485100 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 9 | MYC | chr6:58484042-58484112 | MCF-7 | breast: | n/a | n/a |
| 10 | MYC | chr6:58480854-58480953 | MCF-7 | breast: | n/a | n/a |
| 11 | POLR2A | chr6:58482297-58482455 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 12 | POLR2A | chr6:58482273-58482375 | Gliobla | brain: | n/a | n/a |
| 13 | ZNF263 | chr6:58482220-58482370 | HEK293-T-REx | kidney: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000223633 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs563341982 | chr6:58483936-58483937 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs201045397 | chr6:58484138-58484139 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs532299798 | chr6:58484168-58484169 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs578081045 | chr6:58485060-58485061 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs568157246 | chr6:58485068-58485069 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs557988172 | chr6:58485069-58485070 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs190910330 | chr6:58485093-58485094 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs114440404 | chr6:58485100-58485101 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 21448237 | 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 |
| Gastric cancer | 17908304 | CNVD |
| Neuroblastoma | 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 |
| Neuroblastoma | 18923191 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Systemic lupus erythematosus | 17503323 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Non-syndromic sensorineural hearing loss | 17431168 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
