Variant report
| Variant | esv3493755 |
|---|---|
| Chromosome Location | chr6:167210239-167210324 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:167209245..167212049-chr6:167411313..167412932,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000227598 | chromatin interactions |
| ENSG00000265828 | chromatin interactions |
| ENSG00000272980 | chromatin interactions |
| ENSG00000213066 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:6 , 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 | rs560706244 | chr6:167210249-167210250 | Weak transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 2 | rs527978031 | chr6:167210254-167210255 | Weak transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 3 | rs9459760 | chr6:167210288-167210289 | Weak transcription | Chromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs111833448 | chr6:167210311-167210312 | Weak transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 5 | rs371778028 | chr6:167210315-167210316 | Weak transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 6 | rs139892165 | chr6:167210324-167210325 | Weak transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:81)
| Disease | PMID | Source |
|---|---|---|
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | 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 |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 19010834 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Intracranial tumor | 16823260 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Malignant melanoma | 18718029 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Leukemia | 18688285 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Chordoma | 18071362 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| abnormal development | 18461090 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| chordoma | 19801981 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Autism | 17483303 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Autism | 22549408 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:167182200-167218600 | Weak transcription | Right Atrium | heart |
| 2 | chr6:167207200-167212000 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 3 | chr6:167208000-167212000 | Weak transcription | Brain Anterior Caudate | brain |
| 4 | chr6:167208400-167213400 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 5 | chr6:167208600-167211600 | Weak transcription | Brain Cingulate Gyrus | brain |
| 6 | chr6:167208800-167211000 | Weak transcription | Stomach Smooth Muscle | stomach |
| 7 | chr6:167209800-167218600 | Weak transcription | Gastric | stomach |
| 8 | chr6:167210000-167214800 | Weak transcription | Esophagus | oesophagus |
