Variant report
Variant | rs287009 |
---|---|
Chromosome Location | chr12:42047584-42047585 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr12:42047535-42047891 | HepG2 | liver: | n/a | chr12:42047701-42047712 |
2 | CEBPB | chr12:42047533-42047850 | IMR90 | lung: | n/a | chr12:42047701-42047712 |
3 | SPI1 | chr12:42047110-42048123 | HL-60 | blood: | n/a | n/a |
4 | CEBPB | chr12:42047532-42047871 | A549 | lung: | n/a | chr12:42047701-42047712 |
5 | SPI1 | chr12:42047532-42047934 | HL-60 | blood: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RNA5SP360 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10506207 | 0.81[EUR][1000 genomes] |
rs10748311 | 0.81[EUR][1000 genomes] |
rs10880126 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11181058 | 0.81[ASN][1000 genomes] |
rs11181061 | 0.85[ASN][1000 genomes] |
rs11181074 | 0.85[ASN][1000 genomes] |
rs1497181 | 0.86[EUR][1000 genomes] |
rs1979749 | 0.81[ASN][1000 genomes] |
rs2167352 | 0.86[EUR][1000 genomes] |
rs287008 | 0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs287025 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs3906840 | 0.82[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs3943523 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs4768361 | 0.85[ASN][1000 genomes] |
rs58741051 | 0.85[ASN][1000 genomes] |
rs6582356 | 0.87[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs73118189 | 0.85[ASN][1000 genomes] |
rs73124212 | 0.85[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3337301 | chr12:41851654-42093677 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
2 | nsv899040 | chr12:41905897-42181706 | Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
3 | nsv899041 | chr12:42005690-42072514 | Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
4 | nsv832386 | chr12:42017259-42189476 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
5 | nsv870246 | chr12:42028555-42066192 | Enhancers Weak transcription Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
6 | nsv899042 | chr12:42031131-42072514 | Enhancers Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
7 | nsv1040209 | chr12:42031660-42060070 | Enhancers Weak transcription Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
8 | nsv1053183 | chr12:42037480-42059813 | Enhancers Weak transcription Active TSS | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
9 | nsv1053830 | chr12:42037480-42060070 | Enhancers Weak transcription Active TSS | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
10 | nsv520892 | chr12:42038171-42058138 | Enhancers Weak transcription Active TSS | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
11 | nsv558701 | chr12:42038171-42105409 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:42045000-42052600 | Weak transcription | Fetal Brain Male | brain |
2 | chr12:42046800-42048800 | Enhancers | Primary monocytes fromperipheralblood | blood |