Variant report
| Variant | esv3401107 |
|---|---|
| Chromosome Location | chr11:4802505-4802842 |
| 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 | 11:4801044-4820112..11:5700314-5707362 | H1-hESC | embryonic stem cell: | embryo |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000132256 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs537980651 | chr11:4802534-4802535 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs556259436 | chr11:4802544-4802545 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs571286658 | chr11:4802568-4802569 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs558704713 | chr11:4802570-4802571 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs538592155 | chr11:4802583-4802584 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs11033849 | chr11:4802631-4802632 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs190325936 | chr11:4802640-4802641 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs373897185 | chr11:4802649-4802650 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs572344816 | chr11:4802663-4802664 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs542554680 | chr11:4802667-4802668 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs576157979 | chr11:4802669-4802670 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs554777170 | chr11:4802734-4802735 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs538832227 | chr11:4802740-4802741 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs576138787 | chr11:4802758-4802759 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs558768592 | chr11:4802779-4802780 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs369219069 | chr11:4802829-4802830 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs373488928 | chr11:4802830-4802831 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs375618719 | chr11:4802831-4802832 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs369997302 | chr11:4802832-4802833 | Inactive region | Chromatin interactive region | 1 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 |
