Variant report
| Variant | rs2204817 |
|---|---|
| Chromosome Location | chr3:160376213-160376214 |
| allele | C/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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:160282314..160285249-chr3:160375835..160378207,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000229320 | Chromatin interaction |
| ENSG00000186432 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11709300 | 0.83[AFR][1000 genomes];0.84[ASN][1000 genomes] |
| rs13065289 | 0.83[AFR][1000 genomes];0.85[ASN][1000 genomes] |
| rs13094009 | 0.85[EUR][1000 genomes] |
| rs1920657 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs1920658 | 0.86[EUR][1000 genomes] |
| rs4679910 | 0.83[ASN][1000 genomes] |
| rs62272215 | 0.85[ASN][1000 genomes] |
| rs6763757 | 0.83[ASN][1000 genomes] |
| rs6763892 | 0.83[ASN][1000 genomes] |
| rs6764067 | 0.92[ASN][1000 genomes] |
| rs6773962 | 0.97[AFR][1000 genomes];0.85[ASN][1000 genomes] |
| rs6788429 | 0.83[ASN][1000 genomes] |
| rs6788886 | 0.82[ASN][1000 genomes] |
| rs6801636 | 0.82[ASN][1000 genomes] |
| rs7629423 | 0.82[EUR][1000 genomes] |
| rs7632884 | 0.92[AFR][1000 genomes];0.85[ASN][1000 genomes] |
| rs9851063 | 0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv532666 | chr3:159777847-160703202 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 271 gene(s) | inside rSNPs | diseases |
| 2 | nsv877703 | chr3:160325458-160398885 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| 3 | esv2757019 | chr3:160351021-160380161 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | esv2759194 | chr3:160351021-160380161 | Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:160372600-160385200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
