Variant report
Variant | rs12547848 |
---|---|
Chromosome Location | chr8:63879389-63879390 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:63878030..63880245-chr8:63911061..63912789,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10957265 | 0.83[AMR][1000 genomes] |
rs10957266 | 0.83[AMR][1000 genomes] |
rs10957268 | 0.83[AMR][1000 genomes] |
rs12541047 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12541993 | 0.89[AMR][1000 genomes] |
rs12543020 | 0.83[AMR][1000 genomes] |
rs12543961 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12545230 | 0.90[AMR][1000 genomes];0.81[ASN][1000 genomes] |
rs12545245 | 0.90[AMR][1000 genomes];0.81[ASN][1000 genomes] |
rs12547772 | 0.90[AMR][1000 genomes];0.81[ASN][1000 genomes] |
rs12548729 | 0.83[AMR][1000 genomes] |
rs12549172 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12675369 | 0.87[AMR][1000 genomes] |
rs12676348 | 0.83[AMR][1000 genomes] |
rs12676761 | 0.97[ASN][1000 genomes] |
rs12682385 | 0.81[AMR][1000 genomes] |
rs16929941 | 0.97[ASN][1000 genomes] |
rs16929963 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16929988 | 0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1963949 | 0.83[AMR][1000 genomes] |
rs4737620 | 0.97[ASN][1000 genomes] |
rs4737621 | 0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4739028 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4739031 | 0.89[AMR][1000 genomes];0.96[ASN][1000 genomes] |
rs4739032 | 0.89[AMR][1000 genomes];0.81[ASN][1000 genomes] |
rs4739047 | 0.83[AMR][1000 genomes] |
rs72656537 | 0.98[ASN][1000 genomes] |
rs72656540 | 0.98[ASN][1000 genomes] |
rs7818582 | 0.83[AMR][1000 genomes] |
rs930840 | 0.87[AMR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1018879 | chr8:63281724-63937632 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
2 | nsv1033527 | chr8:63673915-64073735 | Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
3 | nsv890963 | chr8:63846472-63885100 | Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
4 | nsv890964 | chr8:63848556-63898146 | Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
5 | nsv611447 | chr8:63867493-63883593 | Weak transcription Strong transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | esv3367945 | chr8:63879250-63879595 | Weak transcription Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:63868600-63895800 | Weak transcription | Fetal Brain Female | brain |
2 | chr8:63877800-63880200 | Strong transcription | Cortex derived primary cultured neurospheres | brain |
3 | chr8:63878000-63892000 | Weak transcription | Brain Germinal Matrix | brain |