Variant report
| Variant | esv3374276 |
|---|---|
| Chromosome Location | chr11:5570686-5570802 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:7 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:5563263..5567822-chr11:5569755..5574481,5 | K562 | blood: | |
| 2 | chr11:5568049..5570731-chr11:5574447..5575969,2 | K562 | blood: | |
| 3 | 11:5110510-5114921..11:5566274-5571131 | Hela-S3 | cervix: | |
| 4 | chr11:5559843..5562980-chr11:5569968..5572685,3 | K562 | blood: | |
| 5 | 11:5033143-5038367..11:5566274-5571131 | Hela-S3 | cervix: | |
| 6 | 11:4988858-5002113..11:5566274-5571131 | Hela-S3 | cervix: | |
| 7 | chr11:5570004..5572653-chr11:5573253..5575069,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000226157 | chromatin interactions |
| ENSG00000181616 | chromatin interactions |
| ENSG00000248553 | chromatin interactions |
| ENSG00000225003 | chromatin interactions |
| ENSG00000224300 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs546480489 | chr11:5570696-5570697 | Weak transcription | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
| 2 | rs558205020 | chr11:5570700-5570701 | Weak transcription | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
| 3 | rs573302182 | chr11:5570732-5570733 | Weak transcription | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
| 4 | rs424299 | chr11:5570771-5570772 | Weak transcription | Chromatin interactive region | 5 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 5 | rs375522015 | chr11:5570784-5570785 | Weak transcription | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:61)
| Disease | PMID | Source |
|---|---|---|
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 19432969 | CNVD |
| Alzheimer''s disease | 17576883 | CNVD |
| Long-qt syndrome | 17576883 | CNVD |
| Emphysema | 19352772 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Chordoma | 18071362 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Cancer | 21183584 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioma | 17123091 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Neuroblastoma | 21124317 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Cancer | 17160897 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21364760 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:5563600-5582400 | Weak transcription | Aorta | Aorta |
| 2 | chr11:5570200-5571400 | Weak transcription | NHDF-Ad | bronchial |
| 3 | chr11:5570200-5571600 | Weak transcription | K562 | blood |
