Variant report
| Variant | rs4512123 |
|---|---|
| Chromosome Location | chr5:106446935-106446936 |
| allele | C/T |
| 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:27)
| rs_ID | r2[population] |
|---|---|
| rs10042436 | 0.80[AMR][1000 genomes] |
| rs10060467 | 0.93[AMR][1000 genomes] |
| rs10900899 | 1.00[ASN][1000 genomes] |
| rs11242630 | 1.00[ASN][1000 genomes] |
| rs11959317 | 1.00[ASN][1000 genomes] |
| rs12188989 | 0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs1422202 | 0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes] |
| rs17159492 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17159517 | 0.96[EUR][1000 genomes] |
| rs56205882 | 0.98[EUR][1000 genomes] |
| rs56307182 | 1.00[ASN][1000 genomes] |
| rs56379720 | 1.00[ASN][1000 genomes] |
| rs6884722 | 0.89[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72780137 | 0.96[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs72780138 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72780142 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72780143 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72780145 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72780149 | 0.98[EUR][1000 genomes] |
| rs72780150 | 0.98[EUR][1000 genomes] |
| rs72780159 | 0.96[EUR][1000 genomes] |
| rs72780162 | 0.98[EUR][1000 genomes] |
| rs72780184 | 0.91[EUR][1000 genomes] |
| rs72782143 | 1.00[ASN][1000 genomes] |
| rs72788567 | 0.86[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs72788568 | 0.86[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs7720389 | 1.00[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 | nsv1030118 | chr5:106006097-106847949 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv823170 | chr5:106326293-106673695 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv599332 | chr5:106403516-106502006 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | esv2752056 | chr5:106422649-106563101 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:106444200-106452600 | Weak transcription | Fetal Heart | heart |
