Variant report
Variant | nsv291226 |
---|---|
Chromosome Location | chr4:21833309-21839155 |
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 | rs548071505 | chr4:21833349-21833350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs73256574 | chr4:21833385-21833386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs540013623 | chr4:21833404-21833405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs557974899 | chr4:21833431-21833432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs575710127 | chr4:21833437-21833438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs541114218 | chr4:21833440-21833441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs188787441 | chr4:21833460-21833461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs536784496 | chr4:21833465-21833466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs192098171 | chr4:21833472-21833473 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs573323814 | chr4:21833484-21833485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs553016676 | chr4:21833489-21833490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs139393327 | chr4:21833527-21833528 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs184408491 | chr4:21833530-21833531 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs143300440 | chr4:21833572-21833573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs545187121 | chr4:21833590-21833591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs574757020 | chr4:21833607-21833608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs563507553 | chr4:21833644-21833645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs113814764 | chr4:21833652-21833653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs190332614 | chr4:21833657-21833658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs2175783 | chr4:21833671-21833672 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs550317930 | chr4:21833680-21833681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs181921211 | chr4:21833724-21833725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs187420846 | chr4:21833725-21833726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs374812337 | chr4:21833754-21833755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs547515295 | chr4:21833892-21833893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs566359182 | chr4:21833924-21833925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs2137650 | chr4:21833931-21833932 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs369974552 | chr4:21833960-21833961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs534748100 | chr4:21833987-21833988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs115990978 | chr4:21834020-21834021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs569932525 | chr4:21834045-21834046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs530822794 | chr4:21834048-21834049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs536721194 | chr4:21834067-21834068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs555049545 | chr4:21834123-21834124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs575823124 | chr4:21834158-21834159 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs534605940 | chr4:21834185-21834186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs4470613 | chr4:21834189-21834190 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs577850925 | chr4:21834202-21834203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs61181954 | chr4:21834208-21834209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs201156989 | chr4:21834217-21834218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs200150594 | chr4:21834228-21834229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs5856673 | chr4:21834232-21834233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs563442511 | chr4:21834248-21834249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs575510291 | chr4:21834279-21834280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs553361017 | chr4:21834291-21834292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs4431214 | chr4:21834303-21834304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs360690 | chr4:21834320-21834321 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs201476305 | chr4:21834324-21834325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs578147799 | chr4:21834347-21834348 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs13127792 | chr4:21834358-21834359 | Weak transcription | n/a | n/a | Overlapped CNVs | 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 |
Cancer | 22183965 | CNVD |
Gastric cancer | 16891809 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:21832200-21837200 | Weak transcription | HUVEC | blood vessel |
2 | chr4:21837000-21837800 | Enhancers | Muscle Satellite Cultured Cells | -- |
3 | chr4:21837200-21837800 | Enhancers | HUVEC | blood vessel |