Variant report
Variant | nsv527678 |
---|---|
Chromosome Location | chr4:21494694-21494981 |
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 | rs1013568 | chr4:21494694-21494695 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs114823089 | chr4:21494695-21494696 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs572551367 | chr4:21494699-21494700 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs115626790 | chr4:21494701-21494702 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs185151946 | chr4:21494764-21494765 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs10003390 | chr4:21494784-21494785 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs10003394 | chr4:21494799-21494800 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs561663296 | chr4:21494836-21494837 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs529021320 | chr4:21494856-21494857 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs148168136 | chr4:21494909-21494910 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs142682808 | chr4:21494943-21494944 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs533122228 | chr4:21494977-21494978 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs17466300 | chr4:21494981-21494982 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17603634 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Cancer | 21637783 | CNVD |
Melanoma | 21693616 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Cervical cancer | 21062161 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Neuroblastoma | 18923191 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21785460 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Cancer | 21183584 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
Breast cancer | 17133270 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Melanoma | 22183965 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 22737080 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 22183965 | CNVD |
Gastric cancer | 16891809 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:21494400-21495800 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |