Variant report
Variant | rs7438713 |
---|---|
Chromosome Location | chr4:48467192-48467193 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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rs_ID | r2[population] |
---|---|
rs1015699 | 0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes] |
rs11731383 | 0.82[AMR][1000 genomes];0.96[ASN][1000 genomes] |
rs12503644 | 0.82[AMR][1000 genomes];0.82[ASN][1000 genomes] |
rs13150017 | 0.90[ASN][1000 genomes] |
rs1488647 | 0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs16861305 | 0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2353315 | 0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes] |
rs2353855 | 0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes] |
rs34975258 | 0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes] |
rs4695377 | 0.82[AMR][1000 genomes];0.96[ASN][1000 genomes] |
rs4695381 | 0.92[ASN][1000 genomes] |
rs62309455 | 0.97[ASN][1000 genomes] |
rs62309458 | 0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs6834339 | 0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs6838613 | 0.95[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv470034 | chr4:48427773-48605628 | Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 7 gene(s) | inside rSNPs | diseases |
2 | nsv594121 | chr4:48427773-48605628 | Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 7 gene(s) | inside rSNPs | diseases |
3 | nsv1005268 | chr4:48444307-48484389 | Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
4 | nsv537086 | chr4:48444307-48484389 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:48464400-48471600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |