Variant report
Variant | rs34254519 |
---|---|
Chromosome Location | chr12:39041235-39041236 |
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] |
---|---|
rs10875979 | 0.97[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs10875991 | 0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10876086 | 0.84[AMR][1000 genomes] |
rs1095575 | 0.90[EUR][1000 genomes] |
rs11168505 | 0.86[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs11168985 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11169031 | 0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11169142 | 0.87[EUR][1000 genomes] |
rs11169144 | 0.89[EUR][1000 genomes] |
rs11169169 | 0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11169301 | 0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11169387 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs11169508 | 0.84[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11169511 | 0.84[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11169547 | 0.84[AMR][1000 genomes] |
rs11183940 | 0.81[AFR][1000 genomes] |
rs11183941 | 0.81[AFR][1000 genomes] |
rs11514111 | 0.83[AMR][1000 genomes] |
rs11609286 | 0.81[AFR][1000 genomes] |
rs11610376 | 0.84[AMR][1000 genomes] |
rs12322306 | 0.87[EUR][1000 genomes] |
rs1352122 | 0.89[EUR][1000 genomes] |
rs1352123 | 0.87[EUR][1000 genomes] |
rs1393537 | 0.81[AFR][1000 genomes] |
rs1403523 | 0.86[EUR][1000 genomes] |
rs1486345 | 0.88[EUR][1000 genomes] |
rs1486357 | 0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1601579 | 0.84[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs1684395 | 0.87[EUR][1000 genomes] |
rs1684406 | 0.87[EUR][1000 genomes] |
rs1684407 | 0.86[EUR][1000 genomes] |
rs1684411 | 0.88[EUR][1000 genomes] |
rs1684413 | 0.88[EUR][1000 genomes] |
rs1684414 | 0.89[EUR][1000 genomes] |
rs1684415 | 0.89[EUR][1000 genomes] |
rs1684416 | 0.86[EUR][1000 genomes] |
rs1719830 | 0.86[EUR][1000 genomes] |
rs1719848 | 0.85[EUR][1000 genomes] |
rs1719852 | 0.88[EUR][1000 genomes] |
rs1719853 | 0.88[EUR][1000 genomes] |
rs1719854 | 0.86[EUR][1000 genomes] |
rs1719855 | 0.87[EUR][1000 genomes] |
rs1719856 | 0.87[EUR][1000 genomes] |
rs1719858 | 0.89[EUR][1000 genomes] |
rs1843639 | 0.84[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs2069211 | 0.87[EUR][1000 genomes] |
rs3886109 | 0.84[AMR][1000 genomes] |
rs4768328 | 0.89[EUR][1000 genomes] |
rs4768330 | 0.89[EUR][1000 genomes] |
rs55828987 | 0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6580726 | 0.90[EUR][1000 genomes] |
rs6580755 | 0.88[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs7136593 | 0.88[EUR][1000 genomes] |
rs7301104 | 0.84[AMR][1000 genomes] |
rs73096706 | 0.81[AFR][1000 genomes] |
rs7963716 | 0.81[AFR][1000 genomes] |
rs7973992 | 0.84[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs7975243 | 0.81[AFR][1000 genomes] |
rs826838 | 0.90[EUR][1000 genomes] |
rs826851 | 0.89[EUR][1000 genomes] |
rs826855 | 0.84[EUR][1000 genomes] |
rs826856 | 0.88[EUR][1000 genomes] |
rs826858 | 0.85[EUR][1000 genomes] |
rs826870 | 0.88[EUR][1000 genomes] |
rs826873 | 0.88[EUR][1000 genomes] |
rs826874 | 0.80[EUR][1000 genomes] |
rs826878 | 0.80[EUR][1000 genomes] |
rs826879 | 0.91[EUR][1000 genomes] |
rs826886 | 0.91[EUR][1000 genomes] |
rs826888 | 0.90[EUR][1000 genomes] |
rs826889 | 0.90[EUR][1000 genomes] |
rs826891 | 0.85[EUR][1000 genomes] |
rs826892 | 0.85[EUR][1000 genomes] |
rs844115 | 0.81[EUR][1000 genomes] |
rs851934 | 0.86[EUR][1000 genomes] |
rs860400 | 0.87[EUR][1000 genomes] |
rs864324 | 0.82[EUR][1000 genomes] |
rs864325 | 0.87[EUR][1000 genomes] |
rs980571 | 0.87[EUR][1000 genomes] |
rs980572 | 0.88[EUR][1000 genomes] |
rs980573 | 0.87[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2422488 | chr12:38103874-39070734 | ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
2 | nsv469356 | chr12:38242029-39187408 | Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
3 | nsv558574 | chr12:38242029-39187408 | Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
4 | nsv1039538 | chr12:38640895-39180750 | Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
5 | nsv1039821 | chr12:38959645-39121578 | Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
6 | nsv1053316 | chr12:38959645-39122853 | Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
7 | nsv1043831 | chr12:38979065-39117868 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
8 | nsv541479 | chr12:38979065-39117868 | ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
9 | nsv1045040 | chr12:39038114-39084094 | Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS | TF binding regionChromatin interactive regionmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:39038800-39041400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr12:39039400-39053000 | Weak transcription | Left Ventricle | heart |
3 | chr12:39039800-39055800 | Weak transcription | Hela-S3 | cervix |
4 | chr12:39041200-39041800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |