Variant report
Variant | rs4147255 |
---|---|
Chromosome Location | chr1:228740121-228740122 |
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 |
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No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10753451 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10753452 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs10799479 | 0.80[EUR][1000 genomes] |
rs10916338 | 0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12028431 | 0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12035708 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12140890 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12407568 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs12542 | 0.86[CEU][hapmap] |
rs1925714 | 0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1925717 | 0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1925721 | 0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1925722 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs1925730 | 0.86[CEU][hapmap] |
rs2182200 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs35598069 | 0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs35724040 | 0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4147256 | 0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4412590 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs4653558 | 0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs4653977 | 0.95[ASN][1000 genomes] |
rs4653979 | 0.98[ASN][1000 genomes] |
rs6426505 | 0.88[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs6426507 | 0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs6670856 | 0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs728964 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7415895 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs744668 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7533560 | 0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv32853 | chr1:227880116-228806209 | Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 187 gene(s) | inside rSNPs | diseases |
2 | nsv1009891 | chr1:228450763-228742676 | Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 68 gene(s) | inside rSNPs | diseases |
3 | nsv1013500 | chr1:228459134-228849601 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 98 gene(s) | inside rSNPs | diseases |
4 | esv15299 | chr1:228716554-228744099 | Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh | TF binding regionCpG island | 2 gene(s) | inside rSNPs | diseases |
5 | nsv827075 | chr1:228716554-228783674 | Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 28 gene(s) | inside rSNPs | diseases |
6 | nsv945355 | chr1:228716611-228784016 | Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 29 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:228739800-228741000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr1:228740000-228741000 | Enhancers | HSMMtube | muscle |