Variant report
| Variant | rs1742847 |
|---|---|
| Chromosome Location | chr1:119199251-119199252 |
| 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:24)
| rs_ID | r2[population] |
|---|---|
| rs1146303 | 0.82[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1213850 | 0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1213852 | 0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1228985 | 0.86[ASN][1000 genomes] |
| rs1234930 | 0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1237971 | 0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1358861 | 0.86[ASN][1000 genomes] |
| rs1701975 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs1701976 | 0.85[ASN][1000 genomes] |
| rs1701983 | 0.87[ASN][1000 genomes] |
| rs1701984 | 0.87[ASN][1000 genomes] |
| rs1742835 | 0.87[ASN][1000 genomes] |
| rs1742837 | 0.87[ASN][1000 genomes] |
| rs1742838 | 0.87[ASN][1000 genomes] |
| rs1742839 | 0.87[ASN][1000 genomes] |
| rs1742841 | 0.87[ASN][1000 genomes] |
| rs1742848 | 0.81[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs2202581 | 0.87[ASN][1000 genomes] |
| rs2659210 | 0.87[ASN][1000 genomes] |
| rs2659213 | 0.86[ASN][1000 genomes] |
| rs2755131 | 0.84[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2755132 | 0.87[ASN][1000 genomes] |
| rs2755133 | 0.81[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs7550522 | 0.86[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3494191 | chr1:118772550-119719548 | Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 40 gene(s) | inside rSNPs | diseases |
| 2 | esv3494192 | chr1:118772550-119719548 | Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 40 gene(s) | inside rSNPs | diseases |
| 3 | nsv1001997 | chr1:119195605-119217962 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:119199200-119202200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
