Variant report
Variant | rs908095 |
---|---|
Chromosome Location | chr12:59913846-59913847 |
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 |
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No data |
rs_ID | r2[population] |
---|---|
rs11609644 | 0.89[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs11615456 | 0.89[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs12422902 | 0.94[CEU][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs12427190 | 1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs12580155 | 0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12580166 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17559098 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs17640150 | 0.92[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs17640963 | 0.85[EUR][1000 genomes] |
rs1874638 | 1.00[CEU][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs3935589 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs4399358 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs4399359 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs4760295 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs4760296 | 1.00[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes] |
rs4760297 | 0.85[EUR][1000 genomes] |
rs5026370 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs61933351 | 0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs61936271 | 0.92[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs61936275 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs61936276 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs61936294 | 0.85[EUR][1000 genomes] |
rs7296400 | 0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs73109969 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs7315308 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs7975081 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs7979792 | 0.89[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs954322 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs954323 | 0.86[AMR][1000 genomes];0.92[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2762982 | chr12:59659871-60000135 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
2 | nsv1042271 | chr12:59668468-59993468 | Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
3 | nsv1038467 | chr12:59680717-59999008 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
4 | nsv541507 | chr12:59680717-59999008 | Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
5 | nsv1049084 | chr12:59700333-59993468 | Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
6 | nsv869425 | chr12:59746898-60479741 | Weak transcription Enhancers ZNF genes & repeats 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 | 22 gene(s) | inside rSNPs | diseases |
7 | nsv899129 | chr12:59820966-59941423 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
8 | nsv469413 | chr12:59856161-59916767 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
9 | nsv899130 | chr12:59895548-59970631 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
10 | nsv559055 | chr12:59904383-59916767 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
11 | esv1846651 | chr12:59909653-59946206 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:59912400-59921000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr12:59913400-59914000 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
3 | chr12:59913600-59914000 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
4 | chr12:59913600-59914000 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
5 | chr12:59913600-59914000 | Enhancers | Primary T helper cells PMA-I stimulated | -- |