Variant report
| Variant | esv3346410 |
|---|---|
| Chromosome Location | chr11:4784954-4785469 |
| 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 | chr11:4785049..4787150-chr11:4787794..4789663,2 | K562 | blood: | |
| 2 | chr11:4778466..4780961-chr11:4783951..4785593,2 | K562 | blood: | |
| 3 | 11:4778081-4789138..11:4988858-5002113 | Hela-S3 | cervix: | |
| 4 | 11:4778081-4789138..11:5033143-5038367 | K562 | blood: | |
| 5 | chr11:4783931..4787132-chr11:4790389..4793666,3 | K562 | blood: | |
| 6 | 11:4778081-4789138..11:5740069-5747001 | K562 | blood: | |
| 7 | chr11:4776926..4782057-chr11:4782402..4785593,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000167346 | chromatin interactions |
| ENSG00000224300 | chromatin interactions |
| ENSG00000201980 | chromatin interactions |
| ENSG00000225003 | chromatin interactions |
| ENSG00000232381 | chromatin interactions |
| ENSG00000188069 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs79016585 | chr11:4784972-4784973 | Inactive region | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
| 2 | rs571099515 | chr11:4784999-4785000 | Inactive region | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
| 3 | rs535207428 | chr11:4785012-4785013 | Inactive region | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
| 4 | rs73393083 | chr11:4785027-4785028 | Inactive region | Chromatin interactive region | 5 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs114559140 | chr11:4785038-4785039 | Inactive region | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
| 6 | rs148211952 | chr11:4785075-4785076 | Inactive region | Chromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
| 7 | rs556499255 | chr11:4785088-4785089 | Inactive region | Chromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
| 8 | rs12290571 | chr11:4785133-4785134 | Inactive region | Chromatin interactive region | 6 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs191581061 | chr11:4785174-4785175 | Inactive region | Chromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
| 10 | rs557614216 | chr11:4785199-4785200 | Inactive region | Chromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
| 11 | rs141965375 | chr11:4785251-4785252 | Inactive region | Chromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
| 12 | rs185671382 | chr11:4785317-4785318 | Inactive region | Chromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
| 13 | rs375342523 | chr11:4785355-4785356 | Inactive region | Chromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
| 14 | rs568894493 | chr11:4785371-4785372 | Inactive region | Chromatin interactive region | 6 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| 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 |
| Schizophrenia | 20967226 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
