Variant report
Variant | rs2064808 |
---|---|
Chromosome Location | chr20:14434250-14434251 |
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 |
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No data |
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rs_ID | r2[population] |
---|---|
rs10485774 | 0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11698487 | 0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs13042122 | 1.00[ASN][1000 genomes] |
rs16994542 | 0.89[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap] |
rs391759 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
rs416534 | 0.99[ASN][1000 genomes] |
rs433880 | 0.99[ASN][1000 genomes] |
rs445417 | 0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
rs6074731 | 0.89[CHB][hapmap];0.90[JPT][hapmap] |
rs6074733 | 0.97[ASN][1000 genomes] |
rs6074735 | 0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap] |
rs6074737 | 0.93[ASW][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.97[ASN][1000 genomes] |
rs6074738 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6074740 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6074741 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6079411 | 0.81[JPT][hapmap] |
rs6079417 | 0.81[JPT][hapmap] |
rs6079428 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs6079434 | 0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs6079435 | 0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap] |
rs6079438 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6079439 | 0.89[CHB][hapmap];0.91[JPT][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes] |
rs6079446 | 0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs6079461 | 0.92[ASW][hapmap];0.91[CEU][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs6110290 | 0.99[ASN][1000 genomes] |
rs6110293 | 0.84[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs6131581 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6131584 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6131587 | 0.91[ASN][1000 genomes] |
rs6135146 | 0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
rs6135147 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6135153 | 0.86[ASN][1000 genomes] |
rs6135154 | 0.86[ASN][1000 genomes] |
rs6135155 | 0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs8122234 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[ASN][1000 genomes] |
rs913004 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv531479 | chr20:13632491-14434432 | Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
2 | nsv1057486 | chr20:14077828-14469129 | ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
3 | 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 |
4 | nsv585440 | chr20:14352394-14457834 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
5 | nsv1063733 | chr20:14357857-14459453 | Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | nsv585441 | chr20:14374573-14455497 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
7 | 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 |
8 | 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 |
9 | esv2763219 | chr20:14415228-14455497 | Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
10 | nsv523791 | chr20:14420556-14434250 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
11 | 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 |
12 | esv13596 | chr20:14422471-14439945 | Weak transcription Enhancers ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
13 | nsv585443 | chr20:14424581-14434250 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
14 | esv3693285 | chr20:14425337-14449184 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
15 | nsv1065426 | chr20:14426642-14478256 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
16 | nsv442480 | chr20:14428080-14442471 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | inside rSNPs | diseases |
17 | nsv514930 | chr20:14428471-14439889 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | inside rSNPs | diseases |
18 | nsv585445 | chr20:14431463-14440318 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | inside rSNPs | diseases |
19 | 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 |
20 | 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 |
21 | nsv817882 | chr20:14434250-14457834 | Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats | n/a | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:14434000-14434400 | Enhancers | Fetal Kidney | kidney |
2 | chr20:14434200-14437400 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |