Variant report
Variant | rs72851378 |
---|---|
Chromosome Location | chr4:69932554-69932555 |
allele | A/G |
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] |
---|---|
rs10452447 | 0.84[EUR][1000 genomes] |
rs12645107 | 0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12648462 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs17146872 | 0.85[EUR][1000 genomes] |
rs17147077 | 0.83[EUR][1000 genomes] |
rs17520029 | 0.81[EUR][1000 genomes] |
rs1824266 | 0.83[EUR][1000 genomes] |
rs1841050 | 0.84[EUR][1000 genomes] |
rs1841051 | 0.84[EUR][1000 genomes] |
rs1841054 | 0.85[EUR][1000 genomes] |
rs1973106 | 0.86[EUR][1000 genomes] |
rs2018024 | 0.84[EUR][1000 genomes] |
rs2290764 | 0.84[EUR][1000 genomes] |
rs2290765 | 0.82[EUR][1000 genomes] |
rs35470687 | 0.84[EUR][1000 genomes] |
rs4326076 | 0.92[EUR][1000 genomes] |
rs4336293 | 0.89[EUR][1000 genomes] |
rs4472206 | 0.92[EUR][1000 genomes] |
rs4604120 | 0.92[EUR][1000 genomes] |
rs4694487 | 0.83[EUR][1000 genomes] |
rs55725814 | 0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs57520789 | 0.83[EUR][1000 genomes] |
rs57631654 | 0.83[EUR][1000 genomes] |
rs57955338 | 0.93[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs58016259 | 0.84[EUR][1000 genomes] |
rs58077880 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs58174838 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs58655780 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs58878867 | 0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs59300882 | 0.81[EUR][1000 genomes] |
rs59449984 | 0.83[EUR][1000 genomes] |
rs59728350 | 0.84[EUR][1000 genomes] |
rs59970425 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs61021826 | 0.84[EUR][1000 genomes] |
rs61162302 | 0.98[EUR][1000 genomes] |
rs61174505 | 0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs61235442 | 0.83[EUR][1000 genomes] |
rs61416981 | 0.84[EUR][1000 genomes] |
rs6833862 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs72851317 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs72851318 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs72851322 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs72851362 | 0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs72851371 | 0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs72851379 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72852429 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs72852498 | 0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs72853561 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs72853597 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs72855408 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs72855411 | 0.90[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs73826069 | 0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7438042 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7660744 | 0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7677390 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv999654 | chr4:69661415-70132110 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
2 | esv3420586 | chr4:69680878-70322918 | Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 41 gene(s) | inside rSNPs | diseases |
3 | nsv1067773 | chr4:69718248-70715727 | ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
4 | esv3468151 | chr4:69718675-70322776 | Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
5 | esv3468153 | chr4:69718675-70322776 | Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
6 | nsv594582 | chr4:69827340-69988378 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
7 | nsv879379 | chr4:69878929-69987249 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
8 | nsv594583 | chr4:69928642-69988378 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
9 | nsv427683 | chr4:69929701-70414172 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:69925000-69932600 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
2 | chr4:69927400-69934400 | Weak transcription | Liver | Liver |
3 | chr4:69930400-69936600 | Weak transcription | HepG2 | liver |
4 | chr4:69930600-69932600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
5 | chr4:69930600-69944400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
6 | chr4:69932400-69933000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr4:69932400-69933200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |