Variant report
| Variant | nsv579957 |
|---|---|
| Chromosome Location | chr19:51407200-51407721 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:51405117..51408111-chr19:51411398..51414932,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000167749 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:16 , 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 | rs528611116 | chr19:51407264-51407265 | Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs547000047 | chr19:51407279-51407280 | Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs59557274 | chr19:51407282-51407283 | Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs397805400 | chr19:51407286-51407287 | Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs56352322 | chr19:51407293-51407294 | Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs112607658 | chr19:51407301-51407302 | Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs147766636 | chr19:51407321-51407322 | Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs111331772 | chr19:51407392-51407393 | Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs569855957 | chr19:51407418-51407419 | Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs537222634 | chr19:51407424-51407425 | Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs189226106 | chr19:51407591-51407592 | Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs567008266 | chr19:51407602-51407603 | Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs534442928 | chr19:51407603-51407604 | Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs181263272 | chr19:51407628-51407629 | Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs113009500 | chr19:51407672-51407673 | Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs147008665 | chr19:51407699-51407700 | Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Congenital nephrotic syndrome | 18421352 | CNVD |
| Astrocytoma | 17934521 | CNVD |
| Leukemia | 17361228 | CNVD |
| Adenoid cystic carcinoma | 17372589 | 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 |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Chordoma | 18071362 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18852474 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Adrenocortical carcinoma | 18281524 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:51407200-51408000 | Bivalent/Poised TSS | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr19:51407400-51407800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
