Variant report
Variant | rs367028 |
---|---|
Chromosome Location | chr20:14478501-14478502 |
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 |
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rs_ID | r2[population] |
---|---|
rs2423784 | 0.85[ASN][1000 genomes] |
rs2423787 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2423788 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs367845 | 0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs381114 | 0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs385723 | 0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs398879 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs408086 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs408463 | 0.87[ASN][1000 genomes] |
rs412872 | 1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs418170 | 0.87[ASN][1000 genomes] |
rs423060 | 0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs428515 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs429581 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs435939 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs436801 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs444594 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs452664 | 0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs452733 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs455083 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs499986 | 0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs624483 | 0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs665057 | 0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1055499 | chr20:14224873-14848061 | Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
2 | nsv1064721 | chr20:14384931-14648223 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
3 | nsv833926 | chr20:14410153-14572336 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
4 | nsv585442 | chr20:14420556-14485947 | Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
5 | nsv1059770 | chr20:14432394-14549781 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
6 | nsv544187 | chr20:14432394-14549781 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
7 | nsv529577 | chr20:14434373-14799157 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
8 | esv3525012 | chr20:14475602-14480050 | Enhancers Weak transcription Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
9 | esv3525011 | chr20:14476552-14479950 | Enhancers Weak transcription Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
10 | esv3525010 | chr20:14476991-14479385 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
11 | esv3454110 | chr20:14477147-14479065 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
12 | esv3525019 | chr20:14477192-14479068 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
13 | esv3454105 | chr20:14477194-14479041 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
14 | esv3525013 | chr20:14477199-14479041 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
15 | esv3525014 | chr20:14477208-14478994 | Enhancers Flanking Active TSS Weak transcription | n/a | n/a | inside rSNPs | diseases |
16 | esv3454109 | chr20:14477215-14478986 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
17 | esv3525017 | chr20:14477235-14479005 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
18 | esv3525016 | chr20:14477242-14479003 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
19 | esv3454106 | chr20:14477255-14479025 | Weak transcription Flanking Active TSS Enhancers | n/a | n/a | inside rSNPs | diseases |
20 | esv3454107 | chr20:14477280-14478960 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
21 | esv3525015 | chr20:14477290-14478959 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
22 | nsv179622 | chr20:14477294-14478955 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
23 | esv3454111 | chr20:14477294-14478957 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
24 | esv3525020 | chr20:14477294-14478957 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
25 | esv21327 | chr20:14477380-14478896 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
26 | nsv1064008 | chr20:14477895-14540691 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:14462600-14488400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr20:14477200-14479200 | Enhancers | Hela-S3 | cervix |
3 | chr20:14477600-14479000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
4 | chr20:14477800-14478600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
5 | chr20:14478000-14479200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr20:14478200-14479000 | Weak transcription | Fetal Lung | lung |
7 | chr20:14478200-14479400 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
8 | chr20:14478400-14479600 | Enhancers | Brain Hippocampus Middle | brain |
9 | chr20:14478400-14479600 | Enhancers | HUVEC | blood vessel |