Variant report
| Variant | rs7969254 |
|---|---|
| Chromosome Location | chr12:22281609-22281610 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:22279739..22281752-chr12:22287277..22289242,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10841952 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs10841963 | 0.82[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11046313 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes] |
| rs11046315 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11046324 | 0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs11046327 | 0.82[ASN][1000 genomes] |
| rs11609387 | 0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs11833134 | 0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12372007 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2080552 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2216297 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4762729 | 0.91[ASN][1000 genomes] |
| rs4762730 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs4762732 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs56116819 | 0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs7301927 | 0.86[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs7963066 | 0.81[ASN][1000 genomes] |
| rs7964713 | 0.84[EUR][1000 genomes];0.84[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 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 | esv2758298 | chr12:22140834-22339299 | Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | esv2759883 | chr12:22140834-22736907 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:22281400-22282800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
