Variant report
Variant | rs2376425 |
---|---|
Chromosome Location | chr8:54184389-54184390 |
allele | C/T |
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 | chr8:54183317..54185825-chr8:54188088..54189770,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs16918909 | 0.88[AFR][1000 genomes];0.82[AMR][1000 genomes] |
rs16918989 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs16918990 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs2059547 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs2162181 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs57372979 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs58851111 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs60919530 | 0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7007099 | 0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs9792129 | 0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs9792306 | 0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1016224 | chr8:53719941-54367534 | Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
2 | nsv530534 | chr8:53787984-54367353 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
3 | esv3377304 | chr8:53873441-54380875 | Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
4 | esv2752674 | chr8:54181147-54483747 | Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:54184200-54184400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |