Variant report
Variant | rs12299193 |
---|---|
Chromosome Location | chr12:42679474-42679475 |
allele | A/G |
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 |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:42628933..42631905-chr12:42678028..42680094,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000015153 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11181342 | 1.00[YRI][hapmap];0.88[AFR][1000 genomes] |
rs11181372 | 1.00[AFR][1000 genomes] |
rs11181374 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
rs11181376 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
rs11181377 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
rs11181392 | 1.00[AFR][1000 genomes] |
rs11181394 | 1.00[AFR][1000 genomes] |
rs12297162 | 1.00[AFR][1000 genomes] |
rs12297435 | 0.82[AFR][1000 genomes] |
rs12300368 | 0.94[AFR][1000 genomes] |
rs12300611 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
rs12300698 | 1.00[AFR][1000 genomes] |
rs12301505 | 1.00[AFR][1000 genomes] |
rs12305400 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
rs12307866 | 1.00[AFR][1000 genomes] |
rs12308598 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
rs12308904 | 1.00[AFR][1000 genomes] |
rs12309515 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
rs12312690 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
rs12313448 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
rs12313668 | 0.88[AFR][1000 genomes] |
rs12314028 | 1.00[AFR][1000 genomes] |
rs12319084 | 1.00[AFR][1000 genomes] |
rs12321515 | 1.00[AFR][1000 genomes] |
rs12322392 | 1.00[AFR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv430505 | chr12:42297931-42720773 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
2 | nsv1048971 | chr12:42651976-42801204 | Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 12 gene(s) | inside rSNPs | diseases |
3 | nsv1044790 | chr12:42672255-43344184 | Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 29 gene(s) | inside rSNPs | diseases |
4 | nsv541483 | chr12:42672255-43344184 | Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 29 gene(s) | inside rSNPs | diseases |
No data |