Variant report
Variant | nsv521010 |
---|---|
Chromosome Location | chr5:30242594-30257642 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:17)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:17 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr5:30247596-30247636 | ProgFib | skin: | n/a | n/a |
2 | MAFK | chr5:30248910-30248918 | HepG2 | liver: | n/a | n/a |
3 | MAFK | chr5:30253281-30253352 | HepG2 | liver: | n/a | chr5:30253289-30253304 |
4 | MAFK | chr5:30246756-30246935 | HepG2 | liver: | n/a | n/a |
5 | MAFK | chr5:30248751-30248951 | HepG2 | liver: | n/a | n/a |
6 | MAFK | chr5:30253274-30253310 | HepG2 | liver: | n/a | chr5:30253289-30253304 |
7 | MAFK | chr5:30246819-30247019 | HepG2 | liver: | n/a | n/a |
8 | NFYB | chr5:30249453-30249530 | Hela-S3 | cervix: | n/a | n/a |
9 | POLR2A | chr5:30254267-30254329 | HUVEC | blood vessel: | n/a | n/a |
10 | POLR2A | chr5:30257484-30257538 | MCF10A-Er-Src | breast: | n/a | n/a |
11 | POLR2A | chr5:30250482-30250500 | MCF10A-Er-Src | breast: | n/a | n/a |
12 | POLR2A | chr5:30249537-30249619 | MCF10A-Er-Src | breast: | n/a | n/a |
13 | POLR2A | chr5:30246054-30246103 | HUVEC | blood vessel: | n/a | n/a |
14 | REST | chr5:30248296-30248647 | PFSK-1 | brain: | n/a | chr5:30248447-30248455 |
15 | STAT3 | chr5:30243510-30243651 | MCF10A-Er-Src | breast: | n/a | n/a |
16 | TBL1XR1 | chr5:30244154-30244353 | K562 | blood: | n/a | n/a |
17 | TBP | chr5:30253265-30253270 | GM12878 | blood: | n/a | n/a |
No data |
No data |
(count:1 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CDH6-4 | chr5:30248457-30249000 | NONHSAT100874 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000250587 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs4295402 | chr5:30242594-30242595 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs115179457 | chr5:30242597-30242598 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs527715822 | chr5:30242605-30242606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs182753820 | chr5:30242638-30242639 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs547793677 | chr5:30242643-30242644 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs562690499 | chr5:30242683-30242684 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs567619908 | chr5:30242707-30242708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs536356705 | chr5:30242714-30242715 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs150316695 | chr5:30242740-30242741 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs186041884 | chr5:30242741-30242742 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs137991438 | chr5:30242784-30242785 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs531581022 | chr5:30242819-30242820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs559014039 | chr5:30242886-30242887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs112347809 | chr5:30242921-30242922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs80297727 | chr5:30242922-30242923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs554355829 | chr5:30243006-30243007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs77362750 | chr5:30243022-30243023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs553737201 | chr5:30243056-30243057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs573605972 | chr5:30243068-30243069 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs192071487 | chr5:30243088-30243089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs533328189 | chr5:30243113-30243114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs183965453 | chr5:30243118-30243119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs187625839 | chr5:30243119-30243120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs545304236 | chr5:30243139-30243140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs138509254 | chr5:30243145-30243146 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs527601538 | chr5:30243199-30243200 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs541025953 | chr5:30243214-30243215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs192145033 | chr5:30243217-30243218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs73087091 | chr5:30243228-30243229 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs182736491 | chr5:30243229-30243230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs569891679 | chr5:30243250-30243251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs187019496 | chr5:30243286-30243287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs552753113 | chr5:30243301-30243302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs551434701 | chr5:30243316-30243317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs535327066 | chr5:30243339-30243340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs553482179 | chr5:30243363-30243364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs567308621 | chr5:30243370-30243371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs371034245 | chr5:30243378-30243379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs10684951 | chr5:30243413-30243414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs74781157 | chr5:30243415-30243416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs397997221 | chr5:30243431-30243432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs536339789 | chr5:30243437-30243438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs563865783 | chr5:30243511-30243512 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs73087092 | chr5:30243601-30243602 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs147333091 | chr5:30243604-30243605 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs545192186 | chr5:30243621-30243622 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs192899102 | chr5:30243623-30243624 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs530669147 | chr5:30243734-30243735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs541364150 | chr5:30243782-30243783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs184495810 | chr5:30243791-30243792 | 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 | chr5:30242400-30242800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr5:30242800-30245400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr5:30245400-30245800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr5:30249800-30250200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |