Variant report
Variant | rs12550814 |
---|---|
Chromosome Location | chr8:86293905-86293906 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10087278 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs10091566 | 0.87[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs10095352 | 0.83[EUR][1000 genomes] |
rs10097917 | 0.88[ASN][1000 genomes] |
rs11261474 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs11985029 | 0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs11985733 | 0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12544332 | 0.83[ASN][1000 genomes] |
rs13252971 | 0.86[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs13273654 | 0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1390712 | 0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1472360 | 0.83[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs1493302 | 0.92[ASN][1000 genomes] |
rs1496526 | 0.83[ASN][1000 genomes] |
rs1496529 | 0.80[ASN][1000 genomes] |
rs1496531 | 0.83[ASN][1000 genomes] |
rs1496532 | 0.83[ASN][1000 genomes] |
rs1532423 | 0.86[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1532424 | 0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1543852 | 0.86[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1908075 | 0.87[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs20571 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2072696 | 0.80[ASN][1000 genomes] |
rs2173044 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2220972 | 0.81[ASN][1000 genomes] |
rs2453868 | 0.85[EUR][1000 genomes] |
rs2645047 | 0.82[ASN][1000 genomes] |
rs2645049 | 0.83[ASN][1000 genomes] |
rs3758076 | 0.82[EUR][1000 genomes] |
rs3758077 | 0.81[EUR][1000 genomes] |
rs4566 | 0.82[EUR][1000 genomes];0.80[ASN][1000 genomes] |
rs6988475 | 0.82[EUR][1000 genomes] |
rs6997458 | 0.85[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7000950 | 0.86[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs725605 | 0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7824715 | 0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs9286249 | 0.81[EUR][1000 genomes] |
rs955007 | 0.83[EUR][1000 genomes] |
rs9969643 | 0.83[EUR][1000 genomes];0.80[ASN][1000 genomes] |
rs9987281 | 0.91[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1018483 | chr8:86142258-86547831 | Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
2 | nsv1024759 | chr8:86162507-86361533 | Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
3 | nsv539659 | chr8:86162507-86361533 | Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
4 | nsv971674 | chr8:86187966-86338484 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
5 | nsv1022463 | chr8:86257031-86547831 | Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
6 | esv1804888 | chr8:86263098-86986703 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
7 | nsv831377 | chr8:86263107-86444141 | Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:86285200-86315400 | Weak transcription | Fetal Intestine Small | intestine |
2 | chr8:86291600-86295000 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
3 | chr8:86292600-86294800 | Weak transcription | K562 | blood |
4 | chr8:86293400-86295000 | Weak transcription | Liver | Liver |