Variant report
Variant | rs12139331 |
---|---|
Chromosome Location | chr1:76024221-76024222 |
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] |
---|---|
rs11163638 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12128379 | 0.80[AMR][1000 genomes] |
rs1332788 | 0.89[ASN][1000 genomes] |
rs1953077 | 0.85[CEU][hapmap] |
rs211695 | 0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes] |
rs2224101 | 0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs379463 | 0.89[ASN][1000 genomes] |
rs388270 | 0.89[ASN][1000 genomes] |
rs390796 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs398450 | 0.89[ASN][1000 genomes] |
rs425777 | 0.89[ASN][1000 genomes] |
rs425994 | 0.89[ASN][1000 genomes] |
rs4949673 | 1.00[CEU][hapmap];1.00[JPT][hapmap] |
rs61797265 | 0.80[AMR][1000 genomes] |
rs6593584 | 0.85[JPT][hapmap] |
rs6670304 | 0.85[CEU][hapmap] |
rs6695604 | 0.85[CEU][hapmap] |
rs6698829 | 0.82[ASN][1000 genomes] |
rs718883 | 0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap] |
rs7518629 | 0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv519329 | chr1:75830438-76358591 | Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
2 | esv3445096 | chr1:75933216-76126980 | Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
3 | esv2757737 | chr1:75986904-76187748 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
4 | esv2758943 | chr1:75986904-76187748 | Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
5 | nsv830270 | chr1:76002220-76033156 | Weak transcription Enhancers Active TSS | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:76024000-76024800 | Enhancers | HUVEC | blood vessel |
2 | chr1:76024200-76024800 | Weak transcription | Fetal Kidney | kidney |