Variant report
| Variant | esv3381739 |
|---|---|
| Chromosome Location | chr19:45062418-45062628 |
| 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 | chr19:45003124..45004626-chr19:45062170..45065011,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000167384 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs113091743 | chr19:45062436-45062437 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs563826388 | chr19:45062457-45062458 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs113875107 | chr19:45062463-45062464 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs532588942 | chr19:45062481-45062482 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs35358347 | chr19:45062495-45062496 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs66555646 | chr19:45062496-45062497 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs567955381 | chr19:45062497-45062498 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs552784074 | chr19:45062523-45062524 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs12980093 | chr19:45062547-45062548 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs113539256 | chr19:45062552-45062553 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs12978720 | chr19:45062553-45062554 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs187137799 | chr19:45062574-45062575 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs145292790 | chr19:45062594-45062595 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Cancer | 20164919 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 22495311 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Congenital nephrotic syndrome | 18421352 | CNVD |
| Astrocytoma | 17934521 | CNVD |
| Leukemia | 17361228 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| renal disease | 20603712 | CNVD |
| Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Chordoma | 18071362 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Cancer | 20164920 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Ovarian cancer | 20800559 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Spondylocostal dysostosis | 21085971 | CNVD |
| Nicotine metabolism | 21956041 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
