Variant report
Variant | nsv508376 |
---|---|
Chromosome Location | chr5:114313533-114336531 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:27113830..27114333-chr5:114321794..114322294,2 | Hela-S3 | cervix: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000060642 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs191168000 | chr5:114316018-114316019 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs546630448 | chr5:114316020-114316021 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs566855824 | chr5:114316026-114316027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs181202408 | chr5:114316035-114316036 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs549480414 | chr5:114316070-114316071 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs370623946 | chr5:114316132-114316133 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs569400598 | chr5:114316163-114316164 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs75722635 | chr5:114316234-114316235 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs545499714 | chr5:114316254-114316255 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs560272879 | chr5:114316289-114316290 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs558394790 | chr5:114316325-114316326 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs995339 | chr5:114316354-114316355 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs549410591 | chr5:114316393-114316394 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs369258271 | chr5:114316412-114316413 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs73782639 | chr5:114316502-114316503 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs572782298 | chr5:114316587-114316588 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs72809655 | chr5:114316624-114316625 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs186754110 | chr5:114316645-114316646 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs544833608 | chr5:114316758-114316759 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs6896692 | chr5:114316763-114316764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs191541401 | chr5:114316775-114316776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs182883939 | chr5:114316792-114316793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs543960688 | chr5:114316812-114316813 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs186099878 | chr5:114316818-114316819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs533026032 | chr5:114316826-114316827 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs546860873 | chr5:114316898-114316899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs150483147 | chr5:114316910-114316911 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs190913698 | chr5:114316924-114316925 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs183417607 | chr5:114316935-114316936 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs186723692 | chr5:114316969-114316970 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs538348438 | chr5:114317021-114317022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs551954049 | chr5:114317044-114317045 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs371469825 | chr5:114317100-114317101 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs550582202 | chr5:114317130-114317131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs192765511 | chr5:114317144-114317145 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs374469228 | chr5:114317181-114317182 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs534162691 | chr5:114317189-114317190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs75360569 | chr5:114317195-114317196 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs182971159 | chr5:114317213-114317214 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs75672840 | chr5:114317218-114317219 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs554950640 | chr5:114317264-114317265 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs574946488 | chr5:114317288-114317289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs73243977 | chr5:114317347-114317348 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs192718184 | chr5:114317358-114317359 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs557608694 | chr5:114317413-114317414 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs17465426 | chr5:114317425-114317426 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs540079601 | chr5:114317497-114317498 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs1453025 | chr5:114317546-114317547 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
49 | rs529188846 | chr5:114317575-114317576 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs370661346 | chr5:114317631-114317632 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Colorectal cancer | 16272173 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neurocytoma | 17123091 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Renal cell carcinoma | 19377443 | CNVD |
Prostate cancer | 16461572 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:114316000-114317800 | Enhancers | Fetal Brain Male | brain |
2 | chr5:114316000-114317800 | Enhancers | Fetal Brain Female | brain |
3 | chr5:114317800-114320200 | Weak transcription | Fetal Brain Male | brain |
4 | chr5:114320200-114320800 | Enhancers | Fetal Brain Male | brain |
5 | chr5:114321000-114322600 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
6 | chr5:114323600-114324800 | Enhancers | Brain Hippocampus Middle | brain |
7 | chr5:114324200-114324600 | Enhancers | Brain Cingulate Gyrus | brain |
8 | chr5:114325200-114325600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
9 | chr5:114327800-114328600 | Enhancers | H9 Cell Line | embryonic stem cell |
10 | chr5:114328400-114328800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
11 | chr5:114335000-114335200 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |