Variant report
Variant | nsv524554 |
---|---|
Chromosome Location | chr12:30015190-30015494 |
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)
No data |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2200274 | chr12:30015190-30015191 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs189181095 | chr12:30015216-30015217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs2220130 | chr12:30015289-30015290 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
4 | rs533575374 | chr12:30015297-30015298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs181989960 | chr12:30015333-30015334 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs567049699 | chr12:30015341-30015342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs185778451 | chr12:30015352-30015353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs191769293 | chr12:30015416-30015417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs575441272 | chr12:30015437-30015438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs540076391 | chr12:30015439-30015440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs538789573 | chr12:30015459-30015460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs558187621 | chr12:30015460-30015461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs573154317 | chr12:30015461-30015462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs183232065 | chr12:30015480-30015481 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs2200275 | chr12:30015494-30015495 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Melanoma | 18172304 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Wilms tumour | 21544195 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Testicular cancer | 18059402 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Seminomas | 18059402 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 21858162 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 20164919 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Breast cancer | 21509527 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Breast cancer | 17133270 | CNVD |
Cancer | 21129771 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17899364 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Osteosarcoma | 21215367 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:30014400-30016800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |