Variant report
Variant | rs258112 |
---|---|
Chromosome Location | chr5:58698889-58698890 |
allele | A/C |
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] |
---|---|
rs185417 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2441091 | 0.82[AMR][1000 genomes] |
rs244582 | 0.82[AMR][1000 genomes] |
rs244583 | 0.82[AMR][1000 genomes] |
rs244590 | 0.81[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs244591 | 0.81[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs258113 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs258114 | 0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs258115 | 0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs258116 | 0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs258117 | 0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs258118 | 0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs258122 | 0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs258126 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs258127 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs258128 | 0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2591750 | 0.90[ASN][1000 genomes] |
rs365223 | 0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs368538 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs370891 | 0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs378858 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs380993 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs383046 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs387647 | 0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs392901 | 0.91[ASN][1000 genomes] |
rs403672 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes] |
rs403695 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes] |
rs424839 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs431645 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs432879 | 0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs434274 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs454702 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs530656 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs531511 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs60448063 | 0.82[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1023628 | chr5:58557950-58757438 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
2 | nsv917274 | chr5:58565291-58814374 | Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
3 | nsv1030716 | chr5:58636116-58718362 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
4 | nsv881705 | chr5:58668669-58745872 | Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
5 | nsv1028022 | chr5:58673780-58786468 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | nsv1034656 | chr5:58674724-58755580 | Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
7 | nsv598253 | chr5:58675538-58754510 | Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:58682000-58711800 | Weak transcription | Psoas Muscle | Psoas |
2 | chr5:58697800-58699200 | Strong transcription | A549 | lung |
3 | chr5:58697800-58703800 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
4 | chr5:58698800-58702400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |