Variant report
Variant | rs11834600 |
---|---|
Chromosome Location | chr12:21814574-21814575 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:21810877..21812583-chr12:21812955..21814773,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000256615 | TF binding region |
LDHB | TF binding region |
ENSG00000111716 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10841872 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10841873 | 0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10841874 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs11046147 | 0.84[AMR][1000 genomes];0.82[ASN][1000 genomes] |
rs11046148 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs11046149 | 0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs11046150 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs11046151 | 0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes] |
rs11046153 | 0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs11046154 | 0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs11046156 | 0.82[ASN][1000 genomes] |
rs11832211 | 0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs11836830 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs12824571 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12824788 | 0.82[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs12824936 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs12825320 | 0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12826014 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs12829701 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12830306 | 0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs58134911 | 0.82[ASN][1000 genomes] |
rs60462572 | 0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs66978947 | 0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs67247140 | 0.81[EUR][1000 genomes];0.80[ASN][1000 genomes] |
rs67286733 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs7135965 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7297042 | 0.81[AMR][1000 genomes];0.82[ASN][1000 genomes] |
rs7302534 | 0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7302639 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7303185 | 0.86[ASN][1000 genomes] |
rs7303528 | 0.81[AMR][1000 genomes];0.82[ASN][1000 genomes] |
rs7303612 | 0.86[ASN][1000 genomes] |
rs7303644 | 0.81[AMR][1000 genomes];0.82[ASN][1000 genomes] |
rs73077300 | 0.82[AMR][1000 genomes];0.84[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1043936 | chr12:21562673-21979030 | ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 46 gene(s) | inside rSNPs | diseases |
2 | nsv557741 | chr12:21578559-22169854 | Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 50 gene(s) | inside rSNPs | diseases |
3 | nsv469164 | chr12:21688900-21966701 | Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
4 | nsv557744 | chr12:21688900-21966701 | Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
5 | nsv832349 | chr12:21749093-21930695 | Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:21810800-21816400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr12:21811200-21815400 | Weak transcription | Skeletal Muscle Male | skeletal muscle |