Variant report
Variant | rs2124243 |
---|---|
Chromosome Location | chr6:130892869-130892870 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10005541 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs10025923 | 0.92[EUR][1000 genomes] |
rs11935485 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs11936119 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs11941744 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs1455302 | 0.87[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs28780400 | 1.00[ASN][1000 genomes] |
rs34421130 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs4296696 | 0.92[EUR][1000 genomes] |
rs4380548 | 0.88[EUR][1000 genomes] |
rs4406043 | 0.92[EUR][1000 genomes] |
rs4583784 | 0.92[EUR][1000 genomes] |
rs4588482 | 0.95[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs56723253 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs58453514 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs58870974 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs60896670 | 0.87[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs62308755 | 0.89[EUR][1000 genomes] |
rs62308756 | 0.88[EUR][1000 genomes] |
rs62308757 | 0.88[EUR][1000 genomes] |
rs62308758 | 0.86[EUR][1000 genomes] |
rs72662682 | 0.87[EUR][1000 genomes] |
rs7661185 | 0.90[EUR][1000 genomes] |
rs7666610 | 0.87[EUR][1000 genomes] |
rs7684699 | 0.83[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs7693420 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv533971 | chr6:130490694-131172051 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
2 | nsv427767 | chr6:130875056-131008620 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
3 | nsv5475 | chr6:130880169-130924850 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:130882600-130894400 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |