Variant report
Variant | rs12041004 |
---|---|
Chromosome Location | chr1:196098509-196098510 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:2 , 50 per page) page:
1
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10801516 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10922034 | 1.00[ASN][1000 genomes] |
rs10922035 | 1.00[ASN][1000 genomes] |
rs12031315 | 0.81[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs12038314 | 0.81[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs12040221 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12041804 | 1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12562741 | 0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12565586 | 1.00[ASN][1000 genomes] |
rs12567147 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16839499 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16839508 | 0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs4405126 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs4436369 | 0.81[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs4614237 | 0.83[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs59310826 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs61471621 | 0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs61822084 | 1.00[ASN][1000 genomes] |
rs61822088 | 0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7513153 | 0.84[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7520705 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7536148 | 0.84[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7538355 | 0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7543048 | 0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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 | chr1:196097800-196099000 | Enhancers | Fetal Heart | heart |
2 | chr1:196098400-196099600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
3 | chr1:196098400-196102000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
4 | chr1:196098400-196102000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |