Variant report
| Variant | rs594124 |
|---|---|
| Chromosome Location | chr6:85873458-85873459 |
| 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 | chr6:85871743..85874419-chr6:85874787..85877545,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs1321748 | 0.86[EUR][1000 genomes] |
| rs4053810 | 0.85[EUR][1000 genomes] |
| rs4053811 | 0.86[EUR][1000 genomes] |
| rs481531 | 0.84[EUR][1000 genomes] |
| rs504392 | 0.85[EUR][1000 genomes] |
| rs541665 | 0.85[EUR][1000 genomes] |
| rs563365 | 0.85[EUR][1000 genomes] |
| rs571787 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs572893 | 0.85[EUR][1000 genomes] |
| rs575779 | 0.85[EUR][1000 genomes] |
| rs581803 | 0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs593602 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs608022 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs637870 | 0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1017418 | chr6:85344786-86259540 | Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 2 | nsv538347 | chr6:85344786-86259540 | Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 3 | esv3418436 | chr6:85873455-85873639 | Enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:85873200-85874200 | Enhancers | Fetal Muscle Leg | muscle |
