Variant report
Variant | rs55892327 |
---|---|
Chromosome Location | chr3:20050754-20050755 |
allele | C/G |
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)
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No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:20050259..20051981-chr3:20063056..20065911,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000230697 | TF binding region |
ENSG00000229468 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10510497 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12374092 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12486167 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12486526 | 0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12488378 | 1.00[ASN][1000 genomes] |
rs12490848 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12495866 | 0.82[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12497549 | 1.00[ASN][1000 genomes] |
rs17180771 | 1.00[AFR][1000 genomes] |
rs17181337 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17796230 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2365374 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs28597881 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2866630 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3849533 | 1.00[AFR][1000 genomes] |
rs4241539 | 0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4398451 | 1.00[ASN][1000 genomes] |
rs45542931 | 0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4618239 | 1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4858116 | 0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4858632 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4858662 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4858664 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4858674 | 1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs55797296 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56029370 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241279 | 0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241280 | 0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241285 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241286 | 0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs62241289 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241295 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241316 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241322 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241326 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241330 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241333 | 1.00[ASN][1000 genomes] |
rs62241334 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241337 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62241338 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs62241358 | 0.86[AMR][1000 genomes] |
rs62243065 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs62243074 | 1.00[ASN][1000 genomes] |
rs62243075 | 1.00[ASN][1000 genomes] |
rs62243076 | 1.00[ASN][1000 genomes] |
rs73032477 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73034166 | 1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv1828161 | chr3:19547184-20062060 | Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
2 | esv1825914 | chr3:19549859-20137270 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
3 | esv1833006 | chr3:19562271-20389045 | Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
4 | esv1826570 | chr3:19579860-20077414 | Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
5 | esv1833139 | chr3:19579860-20121349 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
6 | nsv1010613 | chr3:19942032-20461486 | Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
7 | esv1826030 | chr3:19972766-20170581 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
8 | esv1825988 | chr3:19976375-20102773 | Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
9 | esv1826830 | chr3:19982972-20632072 | Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
10 | nsv997486 | chr3:20006702-20113989 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
11 | esv1829542 | chr3:20009231-20384627 | Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:20024200-20051400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr3:20050000-20050800 | Enhancers | K562 | blood |