Variant report
| Variant | rs56392464 |
|---|---|
| Chromosome Location | chr18:11679590-11679591 |
| allele | A/G |
| 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 | chr18:11675703..11677385-chr18:11679349..11680961,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs12454527 | 0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12456873 | 0.87[ASN][1000 genomes] |
| rs12605129 | 0.89[ASN][1000 genomes] |
| rs12606108 | 0.87[ASN][1000 genomes] |
| rs12606122 | 0.87[ASN][1000 genomes] |
| rs12607424 | 0.80[ASN][1000 genomes] |
| rs12607713 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12954257 | 0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12957891 | 0.87[ASN][1000 genomes] |
| rs12960691 | 0.86[ASN][1000 genomes] |
| rs12961855 | 0.88[ASN][1000 genomes] |
| rs12962122 | 0.81[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs12962341 | 0.89[ASN][1000 genomes] |
| rs12964976 | 0.86[ASN][1000 genomes] |
| rs12966339 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs12966486 | 0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12967201 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12967203 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12971196 | 0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs35150497 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4541146 | 0.86[ASN][1000 genomes] |
| rs7226488 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7230653 | 0.86[ASN][1000 genomes] |
| rs7231146 | 0.86[ASN][1000 genomes] |
| rs8097296 | 0.87[ASN][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 | nsv1066659 | chr18:11246502-11709409 | Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 24 gene(s) | inside rSNPs | diseases |
| 2 | esv3362008 | chr18:11647654-11959830 | Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| 3 | nsv524533 | chr18:11670845-11683431 | Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv518207 | chr18:11670845-11695676 | Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:11677200-11688400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
