Variant report
| Variant | rs12814293 |
|---|---|
| Chromosome Location | chr12:1789260-1789261 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:1786995..1789598-chr12:1798189..1801520,4 | MCF-7 | breast: | |
| 2 | chr12:1783814..1786407-chr12:1787390..1790840,3 | MCF-7 | breast: | |
| 3 | chr12:1789009..1790648-chr12:1794138..1796039,2 | K562 | blood: | |
| 4 | chr12:1769818..1772528-chr12:1789216..1791447,2 | MCF-7 | breast: | |
| 5 | chr12:1782061..1785967-chr12:1788388..1791261,4 | K562 | blood: | |
| 6 | chr12:1770836..1772849-chr12:1788601..1790387,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000006831 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs11835505 | 0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs34091406 | 0.86[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs34745668 | 0.89[AMR][1000 genomes] |
| rs35018150 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7297514 | 0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs7975600 | 0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7976209 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7980190 | 0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 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 | nsv1042863 | chr12:1163817-1902302 | Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 46 gene(s) | inside rSNPs | diseases |
| 2 | nsv541345 | chr12:1163817-1902302 | Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 46 gene(s) | inside rSNPs | diseases |
| 3 | nsv832304 | chr12:1710249-1868642 | Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 4 | nsv832305 | chr12:1769852-1936054 | Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
| 5 | nsv948480 | chr12:1776217-2284333 | Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:1788000-1789800 | Weak transcription | HepG2 | liver |
