Variant report
Variant | esv3327516 |
---|---|
Chromosome Location | chr5:30371995-30376593 |
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 | chr5:30348749..30351521-chr5:30376148..30377890,2 | K562 | blood: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs546901381 | chr5:30371999-30372000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs115591940 | chr5:30372005-30372006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs555750745 | chr5:30372010-30372011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs140167956 | chr5:30372032-30372033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs184908688 | chr5:30372092-30372093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs548516914 | chr5:30372096-30372097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs187974567 | chr5:30372151-30372152 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs541853545 | chr5:30372181-30372182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs192800290 | chr5:30372208-30372209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs183580462 | chr5:30372218-30372219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs150328833 | chr5:30372226-30372227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs574040804 | chr5:30372280-30372281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs189435423 | chr5:30372296-30372297 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs80020305 | chr5:30372337-30372338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs148983140 | chr5:30372380-30372381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs561514710 | chr5:30372381-30372382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs181953287 | chr5:30372386-30372387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs184550048 | chr5:30372422-30372423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs527612698 | chr5:30372444-30372445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs533142364 | chr5:30372512-30372513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs143792579 | chr5:30372522-30372523 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs190251183 | chr5:30372559-30372560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs529159030 | chr5:30372602-30372603 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs117769212 | chr5:30372608-30372609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs138538262 | chr5:30372627-30372628 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs570157495 | chr5:30372644-30372645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs144139429 | chr5:30372671-30372672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs558214635 | chr5:30372696-30372697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs571688765 | chr5:30372703-30372704 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs146338443 | chr5:30372706-30372707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs74291895 | chr5:30372710-30372711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs367912936 | chr5:30372762-30372763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs572874325 | chr5:30372783-30372784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs372202744 | chr5:30372787-30372788 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs573914644 | chr5:30372800-30372801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs542888708 | chr5:30372822-30372823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs139067669 | chr5:30372824-30372825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs181710138 | chr5:30372839-30372840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs535604157 | chr5:30372871-30372872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs564207116 | chr5:30372877-30372878 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs141454402 | chr5:30372878-30372879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs77889487 | chr5:30372901-30372902 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs560353973 | chr5:30372991-30372992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs570676273 | chr5:30373003-30373004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs10072594 | chr5:30373022-30373023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs555610492 | chr5:30373038-30373039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs150855821 | chr5:30373113-30373114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs138013755 | chr5:30373118-30373119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs201023648 | chr5:30373130-30373131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs372521443 | chr5:30373140-30373141 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Cervical squamous cell carcinoma | 21590768 | CNVD |
Non-small cell lung cancer | 20864512 | 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 |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | 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 |
Cancer | 16751803 | CNVD |
Breast cancer | 16608533 | CNVD |
Autism | 22495311 | CNVD |
Melanoma | 18172304 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Intellectual disability | 22102821 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21183584 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Compulsive disorder | 18923513 | CNVD |
Epilepsy | 18923513 | CNVD |
Prader-willi syndrome | 18923513 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Glioma | 20126413 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Breast cancer | 22032731 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 20409316 | CNVD |
Medulloblastoma | 19270706 | CNVD |
Breast cancer | 19553991 | CNVD |
Lung cancer | 19553991 | CNVD |
Melanoma | 19553991 | CNVD |
Ovarian cancer | 19553991 | CNVD |
Prostate cancer | 19553991 | CNVD |
Non-small cell lung cancer | 17156491 | CNVD |
Breast cancer | 17133270 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 18923514 | CNVD |
Schizophrenia | 22241247 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:30366400-30378800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr5:30373200-30373600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr5:30373600-30376400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
4 | chr5:30376400-30376800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |