Variant report
Variant | nsv558747 |
---|---|
Chromosome Location | chr12:43022946-43027453 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:22)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:22 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr12:43025444-43025655 | A549 | lung: | n/a | n/a |
2 | CEBPB | chr12:43025345-43025677 | IMR90 | lung: | n/a | n/a |
3 | CEBPB | chr12:43025330-43025600 | K562 | blood: | n/a | n/a |
4 | CEBPB | chr12:43025322-43025688 | Hela-S3 | cervix: | n/a | n/a |
5 | CEBPB | chr12:43025359-43025674 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | EP300 | chr12:43024204-43024416 | K562 | blood: | n/a | n/a |
7 | EP300 | chr12:43025398-43025636 | Hela-S3 | cervix: | n/a | n/a |
8 | KAP1 | chr12:43023782-43024522 | U2OS | brain: | n/a | n/a |
9 | KAP1 | chr12:43023607-43024511 | HEK293 | kidney: | n/a | n/a |
10 | MAZ | chr12:43027324-43027341 | HepG2 | liver: | n/a | n/a |
11 | POLR2A | chr12:43026076-43026105 | MCF10A-Er-Src | breast: | n/a | n/a |
12 | POLR2A | chr12:43023525-43023576 | GM12878 | blood: | n/a | n/a |
13 | POLR2A | chr12:43023607-43023620 | MCF10A-Er-Src | breast: | n/a | n/a |
14 | PRDM1 | chr12:43025419-43025709 | Hela-S3 | cervix: | n/a | chr12:43025547-43025561 chr12:43025548-43025561 chr12:43025548-43025557 chr12:43025464-43025479 |
15 | RCOR1 | chr12:43024116-43024461 | K562 | blood: | n/a | n/a |
16 | SETDB1 | chr12:43023947-43024926 | U2OS | brain: | n/a | n/a |
17 | SPI1 | chr12:43025453-43025798 | HL-60 | blood: | n/a | n/a |
18 | STAT3 | chr12:43025541-43025741 | MCF10A-Er-Src | breast: | n/a | n/a |
19 | TAL1 | chr12:43024297-43024443 | K562 | blood: | n/a | n/a |
20 | TCF7L2 | chr12:43023886-43024538 | HEK293 | kidney: | n/a | n/a |
21 | TEAD4 | chr12:43024071-43024481 | K562 | blood: | n/a | n/a |
22 | ZNF384 | chr12:43024570-43024588 | K562 | blood: | n/a | n/a |
No data |
(count:2 , 50 per page) page:
1
(count:1 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PRICKLE1-1 | chr12:43023263-43023488 | ENSG00000257510 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000257687 | TF binding region |
ENSG00000257405 | chromatin interactions |
POGZ | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7960368 | chr12:43022946-43022947 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs77558496 | chr12:43023015-43023016 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs12299667 | chr12:43023028-43023029 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs536981189 | chr12:43023035-43023036 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs79004486 | chr12:43023090-43023091 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs536155609 | chr12:43023109-43023110 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs7979122 | chr12:43023266-43023267 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs77045341 | chr12:43023298-43023299 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs545517914 | chr12:43023327-43023328 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs563708387 | chr12:43023337-43023338 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
11 | rs531181583 | chr12:43023357-43023358 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
12 | rs542941245 | chr12:43023358-43023359 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs200194031 | chr12:43023380-43023381 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
14 | rs561252419 | chr12:43023410-43023411 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
15 | rs150308521 | chr12:43023466-43023467 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs7960950 | chr12:43023476-43023477 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs529919952 | chr12:43023539-43023540 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs182543772 | chr12:43023554-43023555 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs17490259 | chr12:43023672-43023673 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs550700331 | chr12:43023722-43023723 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs76996291 | chr12:43023724-43023725 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs536459318 | chr12:43023728-43023729 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs551029734 | chr12:43023747-43023748 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs554858048 | chr12:43023755-43023756 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs569563145 | chr12:43023787-43023788 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs149120479 | chr12:43023831-43023832 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs187247152 | chr12:43023879-43023880 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs553387651 | chr12:43023914-43023915 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs78722029 | chr12:43023946-43023947 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs545167809 | chr12:43024075-43024076 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs147440234 | chr12:43024098-43024099 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs371141002 | chr12:43024100-43024101 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs557468938 | chr12:43024212-43024213 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs189755912 | chr12:43024246-43024247 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs181707935 | chr12:43024262-43024263 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs561217304 | chr12:43024282-43024283 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs182418228 | chr12:43024300-43024301 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs540554799 | chr12:43024335-43024336 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs1922759 | chr12:43024336-43024337 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs188736515 | chr12:43024339-43024340 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs532177201 | chr12:43024440-43024441 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs1922760 | chr12:43024453-43024454 | Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs150056766 | chr12:43024514-43024515 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs533832859 | chr12:43024528-43024529 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs368667709 | chr12:43024529-43024530 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs193299896 | chr12:43024535-43024536 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs146105541 | chr12:43024542-43024543 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs548422003 | chr12:43024543-43024544 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs566707840 | chr12:43024546-43024547 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs534057365 | chr12:43024566-43024567 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Seminomas | 18059402 | CNVD |
Wilms tumour | 21544195 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Breast cancer | 21949216 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 21637783 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 21183584 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Lissencephaly | 21572526 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Breast cancer | 19602461 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21364760 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:43024400-43026200 | Enhancers | Monocytes-CD14+_RO01746 | blood |
2 | chr12:43024800-43026000 | Enhancers | Primary monocytes fromperipheralblood | blood |
3 | chr12:43025000-43026000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
4 | chr12:43025200-43025600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
5 | chr12:43025200-43026000 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
6 | chr12:43025200-43026600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
7 | chr12:43025600-43026000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
8 | chr12:43025600-43029400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
9 | chr12:43025800-43026200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
10 | chr12:43026000-43029400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |