Variant report
Variant | nsv517473 |
---|---|
Chromosome Location | chr3:23031894-23032340 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- 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 | rs822774 | chr3:23031894-23031895 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs191308677 | chr3:23031955-23031956 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs556084626 | chr3:23031972-23031973 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs57132267 | chr3:23032000-23032001 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs822773 | chr3:23032007-23032008 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs370043978 | chr3:23032008-23032009 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs114236684 | chr3:23032024-23032025 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs533204529 | chr3:23032026-23032027 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs186894241 | chr3:23032047-23032048 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs150203447 | chr3:23032064-23032065 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs190989701 | chr3:23032094-23032095 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs529564257 | chr3:23032103-23032104 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs822772 | chr3:23032109-23032110 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs563030718 | chr3:23032127-23032128 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs533607778 | chr3:23032128-23032129 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs551537174 | chr3:23032179-23032180 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs565019270 | chr3:23032180-23032181 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs183217154 | chr3:23032184-23032185 | Flanking Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs680110 | chr3:23032225-23032226 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
20 | rs566873842 | chr3:23032235-23032236 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs186806537 | chr3:23032236-23032237 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs556459925 | chr3:23032282-23032283 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs571431899 | chr3:23032285-23032286 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs191328961 | chr3:23032304-23032305 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs182628553 | chr3:23032306-23032307 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs188075868 | chr3:23032325-23032326 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs540685897 | chr3:23032338-23032339 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs497387 | chr3:23032340-23032341 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Neuroblastoma | 17327916 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Melanoma | 18172304 | CNVD |
Cervical cancer | 21062161 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Retinoblastoma | 21504564 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Intellectual disability | 22102821 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Breast cancer | 17133270 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Melanoma | 20688739 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:23030000-23032000 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
2 | chr3:23030000-23034200 | Weak transcription | Left Ventricle | heart |
3 | chr3:23030200-23038200 | Weak transcription | Psoas Muscle | Psoas |
4 | chr3:23031800-23032200 | Flanking Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
5 | chr3:23031800-23032600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
6 | chr3:23032000-23032600 | ZNF genes & repeats | Skeletal Muscle Male | skeletal muscle |