Variant report
| Variant | rs4041512 |
|---|---|
| Chromosome Location | chr8:91728648-91728649 |
| allele | A/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 | chr8:91657607..91660096-chr8:91727664..91730553,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000246792 | Chromatin interaction |
| ENSG00000180694 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:7)
| rs_ID | r2[population] |
|---|---|
| rs60218186 | 0.83[AFR][1000 genomes];0.83[AMR][1000 genomes] |
| rs60962323 | 0.83[AFR][1000 genomes];0.83[AMR][1000 genomes] |
| rs73692835 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73692838 | 0.97[AFR][1000 genomes] |
| rs73694536 | 0.83[AFR][1000 genomes];0.83[AMR][1000 genomes] |
| rs73694539 | 0.83[AFR][1000 genomes];0.83[AMR][1000 genomes] |
| rs73694540 | 0.83[AFR][1000 genomes];0.83[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1028628 | chr8:91680968-92418954 | Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 2 | nsv539672 | chr8:91680968-92418954 | Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 3 | nsv972561 | chr8:91715099-91733312 | Enhancers Weak transcription ZNF genes & repeats Strong transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv1034104 | chr8:91723213-91847147 | Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 5 | nsv539673 | chr8:91723213-91847147 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 6 | nsv1018697 | chr8:91727874-91786987 | Enhancers Weak transcription Active TSS ZNF genes & repeats | Chromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
