Variant report
Variant | esv1802248 |
---|---|
Chromosome Location | chr5:17780459-17794035 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs542033793 | chr5:17783448-17783449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs561994464 | chr5:17783469-17783470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs527583369 | chr5:17783510-17783511 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs35316372 | chr5:17783595-17783596 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs34608011 | chr5:17783597-17783598 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs546655663 | chr5:17783641-17783642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs41420449 | chr5:17783686-17783687 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs533270093 | chr5:17783691-17783692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs377563348 | chr5:17783732-17783733 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs201792049 | chr5:17783736-17783737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs200337505 | chr5:17783737-17783738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs528883622 | chr5:17783800-17783801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs369467237 | chr5:17783841-17783842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs535680725 | chr5:17783888-17783889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs575654095 | chr5:17783894-17783895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs191255889 | chr5:17783899-17783900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs539166906 | chr5:17783968-17783969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs138645727 | chr5:17784010-17784011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs566071881 | chr5:17784011-17784012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs75469289 | chr5:17784060-17784061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs77899940 | chr5:17784061-17784062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs115306877 | chr5:17784179-17784180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs367747126 | chr5:17784215-17784216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs553490142 | chr5:17784218-17784219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs140636144 | chr5:17784225-17784226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs10941533 | chr5:17784226-17784227 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
27 | rs570366168 | chr5:17784274-17784275 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs537699024 | chr5:17784284-17784285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs558900861 | chr5:17784330-17784331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs184143106 | chr5:17784359-17784360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs13354648 | chr5:17784390-17784391 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs368237696 | chr5:17784401-17784402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs542095243 | chr5:17784489-17784490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs561857277 | chr5:17784517-17784518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs113689795 | chr5:17784519-17784520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs541275077 | chr5:17784523-17784524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs564347185 | chr5:17784524-17784525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs10941538 | chr5:17784552-17784553 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs574730119 | chr5:17784603-17784604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs6875052 | chr5:17784625-17784626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs563487019 | chr5:17784628-17784629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs181049635 | chr5:17784643-17784644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs549173412 | chr5:17784684-17784685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs565887067 | chr5:17784702-17784703 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs528802624 | chr5:17784721-17784722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs552014492 | chr5:17784748-17784749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs7708009 | chr5:17784779-17784780 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs184385012 | chr5:17784797-17784798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs12186689 | chr5:17784814-17784815 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs7719217 | chr5:17784820-17784821 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Lung cancer | 19547694 | CNVD |
Cri-du chat syndrome | 22283845 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Cancer | 21183584 | CNVD |
Cervical squamous cell carcinoma | 21590768 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 17133270 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Liposarcoma | 21253554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Cervical cancer | 21062161 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Cervical cancer | 18559093 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Multiple myeloma | 17550852 | CNVD |
prenatal diagnosis | 22389664 | CNVD |
Bladder cancer | 21909424 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Breast cancer | 21858162 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 16608533 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Autism | 22495311 | CNVD |
Melanoma | 18172304 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Intellectual disability | 22102821 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Breast cancer | 21364760 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Acute lymphoblastic leukemia | 17640729 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Lung cancer | 16740712 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Melanoma | 22183965 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Prostate cancer | 21965145 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:17783400-17787400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
2 | chr5:17785800-17786000 | Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr5:17785800-17786200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
4 | chr5:17785800-17786200 | Enhancers | H1 Cell Line | embryonic stem cell |
5 | chr5:17785800-17786200 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
6 | chr5:17785800-17786200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
7 | chr5:17785800-17786200 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
8 | chr5:17785800-17786400 | Enhancers | H9 Cell Line | embryonic stem cell |
9 | chr5:17785800-17786400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
10 | chr5:17785800-17786400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
11 | chr5:17786000-17786200 | Flanking Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
12 | chr5:17786800-17787200 | Bivalent/Poised TSS | Breast Myoepithelial Primary Cells | Breast |
13 | chr5:17787200-17787800 | Enhancers | Fetal Lung | lung |
14 | chr5:17787400-17787600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
15 | chr5:17790000-17790600 | Enhancers | Fetal Brain Male | brain |