Variant report
Variant | nsv521396 |
---|---|
Chromosome Location | chr19:52181395-52181798 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs12982077 | chr19:52181395-52181396 | Enhancers Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs372803899 | chr19:52181398-52181399 | Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
3 | rs577350775 | chr19:52181634-52181635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs544781186 | chr19:52181640-52181641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs12982802 | chr19:52181641-52181642 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs575438203 | chr19:52181651-52181652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs542866709 | chr19:52181652-52181653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs28616281 | chr19:52181678-52181679 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs573950216 | chr19:52181696-52181697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs541453047 | chr19:52181720-52181721 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs559870611 | chr19:52181724-52181725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs533495527 | chr19:52181730-52181731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs371614692 | chr19:52181739-52181740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs187584695 | chr19:52181763-52181764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs375007342 | chr19:52181776-52181777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs572870492 | chr19:52181788-52181789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs11673260 | chr19:52181798-52181799 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
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 |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Neuroblastoma | 20406844 | CNVD |
Cancer | 20164920 | CNVD |
Melanoma | 17363583 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Ovarian cancer | 22355333 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:52181200-52181400 | Enhancers | Right Atrium | heart |
2 | chr19:52181200-52181400 | Bivalent Enhancer | Dnd41 | blood |
3 | chr19:52181600-52184600 | Weak transcription | Right Atrium | heart |