Variant report
| Variant | rs11050547 |
|---|---|
| Chromosome Location | chr12:30073752-30073753 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs10843534 | 0.82[EUR][1000 genomes] |
| rs10843545 | 0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs11050518 | 0.83[EUR][1000 genomes] |
| rs11050519 | 0.82[EUR][1000 genomes] |
| rs11050525 | 0.82[EUR][1000 genomes] |
| rs11050526 | 0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs11050528 | 0.92[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs11050536 | 0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs11050537 | 0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs11050538 | 0.84[EUR][1000 genomes] |
| rs12578411 | 0.92[ASN][1000 genomes] |
| rs12809939 | 0.84[EUR][1000 genomes] |
| rs12811388 | 0.82[EUR][1000 genomes] |
| rs12812577 | 0.80[EUR][1000 genomes] |
| rs12813417 | 0.82[EUR][1000 genomes] |
| rs12821024 | 0.84[EUR][1000 genomes] |
| rs12821746 | 0.82[EUR][1000 genomes] |
| rs12825871 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12826590 | 0.84[EUR][1000 genomes] |
| rs12828727 | 0.93[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1466545 | 0.83[EUR][1000 genomes] |
| rs7132449 | 0.80[EUR][1000 genomes] |
| rs7136398 | 0.82[EUR][1000 genomes] |
| rs73073130 | 0.87[ASN][1000 genomes] |
| rs7979574 | 0.81[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv529328 | chr12:29692414-30246209 | Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv469191 | chr12:29939628-30098770 | Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv557958 | chr12:29939628-30098770 | ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv526146 | chr12:29989292-30112823 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | esv2758302 | chr12:30023167-30175232 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | esv2759889 | chr12:30023167-30175232 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30073600-30074800 | Enhancers | Fetal Heart | heart |
| 2 | chr12:30073600-30075000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
