Variant report
Variant | esv14933 |
---|---|
Chromosome Location | chr5:117669987-117672867 |
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 | rs73248572 | chr5:117672601-117672602 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs193090194 | chr5:117672603-117672604 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs370949727 | chr5:117672616-117672617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs386691603 | chr5:117672647-117672648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs6421878 | chr5:117672649-117672650 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs555858250 | chr5:117672656-117672657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs571434810 | chr5:117672662-117672663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs527806801 | chr5:117672723-117672724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs574035307 | chr5:117672725-117672726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs200717233 | chr5:117672727-117672728 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs145906074 | chr5:117672728-117672729 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs138492205 | chr5:117672735-117672736 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs57824556 | chr5:117672742-117672743 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs75075900 | chr5:117672743-117672744 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs547540350 | chr5:117672755-117672756 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs7731935 | chr5:117672778-117672779 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs112276771 | chr5:117672801-117672802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs7732071 | chr5:117672805-117672806 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs570350034 | chr5:117672833-117672834 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs7712359 | chr5:117672852-117672853 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs185692116 | chr5:117672853-117672854 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs376759403 | chr5:117672861-117672862 | 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 |
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 |
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 | 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 |
Salivary gland tumor | 18059337 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Renal cell carcinoma | 19377443 | CNVD |
Prostate cancer | 16461572 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Glaucoma | 21310917 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Breast cancer | 21509527 | CNVD |
Autism | 22543975 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:117672600-117673800 | Enhancers | HUES48 Cell Line | embryonic stem cell |