Variant report
| Variant | rs2731107 |
|---|---|
| Chromosome Location | chr12:48887159-48887160 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000177627 | Chromatin interaction |
| ENSG00000240443 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs10747547 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11168599 | 0.85[ASN][1000 genomes] |
| rs11458 | 0.85[ASN][1000 genomes] |
| rs12371700 | 0.83[ASN][1000 genomes] |
| rs2731091 | 0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2731094 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2731095 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2731097 | 0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2956467 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs57444623 | 0.84[ASN][1000 genomes] |
| rs7294341 | 0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs7302209 | 0.85[ASN][1000 genomes] |
| rs7310960 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7972785 | 0.83[ASN][1000 genomes] |
| rs7974213 | 0.85[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 | nsv427911 | chr12:48670336-48979396 | Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv975416 | chr12:48882416-48893049 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48887000-48891800 | Weak transcription | Brain Hippocampus Middle | brain |
