Variant report
Variant | rs187368 |
---|---|
Chromosome Location | chr5:58680042-58680043 |
allele | A/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] |
---|---|
rs165940 | 0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs168641 | 0.83[EUR][1000 genomes] |
rs16889733 | 0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs171800 | 0.91[ASN][1000 genomes] |
rs171801 | 0.86[ASN][1000 genomes] |
rs187716 | 0.90[ASN][1000 genomes] |
rs2441091 | 0.83[EUR][1000 genomes] |
rs244579 | 0.83[EUR][1000 genomes] |
rs244580 | 0.83[EUR][1000 genomes] |
rs244582 | 0.83[EUR][1000 genomes] |
rs244583 | 0.83[EUR][1000 genomes] |
rs244587 | 0.83[EUR][1000 genomes] |
rs244590 | 0.96[EUR][1000 genomes] |
rs244591 | 0.97[EUR][1000 genomes] |
rs244592 | 0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs244593 | 0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs244594 | 0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs244595 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs244596 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs244597 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs258104 | 0.97[ASN][1000 genomes] |
rs258105 | 0.97[ASN][1000 genomes] |
rs258106 | 0.92[ASN][1000 genomes] |
rs258108 | 0.91[ASN][1000 genomes] |
rs258109 | 0.91[ASN][1000 genomes] |
rs258110 | 0.91[ASN][1000 genomes] |
rs258111 | 0.90[ASN][1000 genomes] |
rs258116 | 0.90[EUR][1000 genomes] |
rs258117 | 0.90[EUR][1000 genomes] |
rs258118 | 0.90[EUR][1000 genomes] |
rs258122 | 0.82[EUR][1000 genomes] |
rs258128 | 0.88[EUR][1000 genomes] |
rs258129 | 0.87[ASN][1000 genomes] |
rs2607343 | 0.96[ASN][1000 genomes] |
rs365223 | 0.94[EUR][1000 genomes] |
rs368538 | 0.96[EUR][1000 genomes] |
rs370891 | 0.96[EUR][1000 genomes] |
rs371775 | 0.97[ASN][1000 genomes] |
rs378858 | 0.96[EUR][1000 genomes] |
rs378869 | 0.97[ASN][1000 genomes] |
rs378970 | 0.97[ASN][1000 genomes] |
rs380118 | 0.97[ASN][1000 genomes] |
rs380993 | 0.96[EUR][1000 genomes] |
rs381755 | 0.97[ASN][1000 genomes] |
rs383046 | 0.96[EUR][1000 genomes] |
rs383444 | 0.97[ASN][1000 genomes] |
rs387647 | 0.96[EUR][1000 genomes] |
rs401013 | 0.97[ASN][1000 genomes] |
rs403672 | 0.96[EUR][1000 genomes] |
rs403695 | 0.96[EUR][1000 genomes] |
rs419744 | 0.94[ASN][1000 genomes] |
rs419953 | 0.97[ASN][1000 genomes] |
rs424839 | 0.96[EUR][1000 genomes] |
rs427433 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs427740 | 0.97[ASN][1000 genomes] |
rs428059 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs429191 | 0.97[ASN][1000 genomes] |
rs431645 | 0.96[EUR][1000 genomes] |
rs432879 | 0.91[EUR][1000 genomes] |
rs433161 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs433565 | 0.97[ASN][1000 genomes] |
rs434183 | 0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs434274 | 0.96[EUR][1000 genomes] |
rs434422 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs441817 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs443191 | 0.97[ASN][1000 genomes] |
rs444552 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs454702 | 0.94[EUR][1000 genomes] |
rs487029 | 0.88[ASN][1000 genomes] |
rs530656 | 0.96[EUR][1000 genomes] |
rs531511 | 0.96[EUR][1000 genomes] |
rs573230 | 0.95[ASN][1000 genomes] |
rs573336 | 0.95[ASN][1000 genomes] |
rs575045 | 0.97[ASN][1000 genomes] |
rs611540 | 0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs611541 | 0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs62355534 | 0.92[ASN][1000 genomes] |
rs62355535 | 0.92[ASN][1000 genomes] |
rs62355536 | 0.88[ASN][1000 genomes] |
rs651576 | 0.89[ASN][1000 genomes] |
rs669240 | 0.97[ASN][1000 genomes] |
rs670169 | 0.97[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 | nsv1032732 | chr5:58637179-58689010 | Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
5 | nsv1022160 | chr5:58645805-58689010 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
6 | 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 |
7 | 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 |
8 | 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 |
9 | 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 |
10 | nsv1032887 | chr5:58678623-58690251 | Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:58666000-58681400 | Weak transcription | Psoas Muscle | Psoas |
2 | chr5:58672200-58689200 | Weak transcription | Fetal Brain Female | brain |
3 | chr5:58672800-58681600 | Weak transcription | Placenta Amnion | Placenta Amnion |
4 | chr5:58675400-58681400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
5 | chr5:58676400-58681600 | Enhancers | A549 | lung |
6 | chr5:58676400-58686200 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
7 | chr5:58678000-58683000 | Weak transcription | Fetal Intestine Small | intestine |
8 | chr5:58678400-58681400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
9 | chr5:58680000-58680200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |