Variant report
Variant | rs4131138 |
---|---|
Chromosome Location | chr1:196089086-196089087 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:196082312..196084819-chr1:196086856..196089362,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10801517 | 0.91[ASN][1000 genomes] |
rs10922026 | 0.92[EUR][1000 genomes] |
rs10922027 | 0.94[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs10922028 | 0.94[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs12036795 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12038453 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12044133 | 0.97[ASN][1000 genomes] |
rs12129673 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs12563475 | 0.92[EUR][1000 genomes] |
rs12566117 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs12724430 | 0.98[ASN][1000 genomes] |
rs35359580 | 0.97[ASN][1000 genomes] |
rs4428867 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs4528102 | 0.98[ASN][1000 genomes] |
rs4625262 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs4658016 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs4658017 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7417237 | 0.94[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs7531690 | 0.97[ASN][1000 genomes] |
rs7534836 | 0.97[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2757765 | chr1:195803764-196119454 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
2 | esv2758989 | chr1:195803764-196119454 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
3 | nsv872948 | chr1:195872295-196236425 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
4 | nsv470769 | chr1:195901676-196187665 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
5 | nsv467339 | chr1:195912579-196119310 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
6 | nsv548738 | chr1:195912579-196119310 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
7 | nsv534209 | chr1:196011881-196208885 | Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
8 | nsv872951 | chr1:196027872-196166278 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
9 | nsv430080 | chr1:196074775-196101014 | Weak transcription Enhancers Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:196083600-196097800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr1:196087200-196097800 | Weak transcription | Fetal Heart | heart |