Variant report
Variant | rs12141628 |
---|---|
Chromosome Location | chr1:72593767-72593768 |
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 |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs11209899 | 0.87[YRI][hapmap] |
rs11209906 | 0.89[YRI][hapmap] |
rs11209916 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs11209920 | 0.84[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs11209921 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs12131816 | 0.87[YRI][hapmap] |
rs12132044 | 0.87[YRI][hapmap] |
rs12133604 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12402629 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12409966 | 0.80[CEU][hapmap];0.86[YRI][hapmap] |
rs1352082 | 0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1385912 | 0.81[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1486084 | 0.88[YRI][hapmap] |
rs1486091 | 0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs1486093 | 0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1486094 | 0.84[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs1486096 | 0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1564970 | 0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2200484 | 0.89[YRI][hapmap] |
rs2220253 | 0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2422135 | 0.89[YRI][hapmap] |
rs2422137 | 0.90[CEU][hapmap];0.95[EUR][1000 genomes] |
rs2630390 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2630392 | 0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap] |
rs2630400 | 0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2630406 | 0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2630431 | 0.85[CEU][hapmap] |
rs2821239 | 0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2821246 | 0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2821285 | 0.85[CEU][hapmap] |
rs56301492 | 0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs57316908 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs727726 | 0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap] |
rs7515320 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7517923 | 0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7541218 | 0.84[JPT][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7556006 | 0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv916783 | chr1:72196061-72707953 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
2 | nsv1007073 | chr1:72419858-72734657 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
3 | nsv1006076 | chr1:72477436-72700903 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
4 | nsv534996 | chr1:72477436-72700903 | Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
5 | nsv428454 | chr1:72504469-72926256 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
6 | nsv870851 | chr1:72533927-72611715 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
7 | nsv1013256 | chr1:72541220-72620102 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
8 | nsv461906 | chr1:72549836-72683226 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
9 | nsv461917 | chr1:72549836-72683226 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
10 | nsv546480 | chr1:72549836-72683226 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
11 | nsv870742 | chr1:72552322-72611715 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
12 | nsv461928 | chr1:72555489-72683226 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
13 | nsv546481 | chr1:72555489-72683226 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
14 | nsv461939 | chr1:72555489-72717743 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
15 | nsv546482 | chr1:72555489-72717743 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
16 | nsv546483 | chr1:72581966-72659880 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | inside rSNPs | diseases |
17 | nsv997768 | chr1:72583375-72665268 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription | n/a | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:72592400-72595200 | Weak transcription | Left Ventricle | heart |