Variant report
| Variant | rs72988296 |
|---|---|
| Chromosome Location | chr6:130940305-130940306 |
| allele | C/T |
| 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 |
rSNPs within LD-proxies of this variant (count:27)
| rs_ID | r2[population] |
|---|---|
| rs17059344 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4144215 | 1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs56677103 | 1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs60789680 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs61286481 | 0.98[ASN][1000 genomes] |
| rs6902478 | 1.00[ASN][1000 genomes] |
| rs6908038 | 1.00[ASN][1000 genomes] |
| rs6924980 | 1.00[ASN][1000 genomes] |
| rs72499767 | 0.81[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs72988292 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs72988295 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs72990208 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72990221 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72990296 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs72990301 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72992209 | 0.81[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72992224 | 0.81[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs72992225 | 0.81[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs7774053 | 0.97[ASN][1000 genomes] |
| rs9483154 | 1.00[ASN][1000 genomes] |
| rs9492659 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9492660 | 1.00[ASN][1000 genomes] |
| rs9492661 | 0.98[ASN][1000 genomes] |
| rs9492662 | 1.00[ASN][1000 genomes] |
| rs9492663 | 1.00[ASN][1000 genomes] |
| rs9492665 | 1.00[ASN][1000 genomes] |
| rs9492667 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| 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 | nsv830806 | chr6:130938330-131107137 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:130940200-130941000 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 2 | chr6:130940200-130941600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
