Variant report
| Variant | rs2048933 |
|---|---|
| Chromosome Location | chr2:21422289-21422290 |
| allele | A/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] |
|---|---|
| rs11124434 | 0.80[EUR][1000 genomes] |
| rs11682662 | 0.86[EUR][1000 genomes] |
| rs11683495 | 0.82[EUR][1000 genomes] |
| rs11688672 | 0.83[EUR][1000 genomes] |
| rs11690364 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12470574 | 0.80[EUR][1000 genomes] |
| rs12477767 | 0.83[EUR][1000 genomes] |
| rs12618122 | 0.95[ASN][1000 genomes] |
| rs12618519 | 0.83[EUR][1000 genomes] |
| rs12619256 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12997825 | 1.00[AFR][1000 genomes];0.87[EUR][1000 genomes] |
| rs13003754 | 0.80[EUR][1000 genomes] |
| rs13010526 | 0.93[EUR][1000 genomes] |
| rs13022408 | 0.83[EUR][1000 genomes] |
| rs1400713 | 1.00[AFR][1000 genomes];0.87[EUR][1000 genomes] |
| rs1914457 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2030195 | 1.00[AFR][1000 genomes];0.86[EUR][1000 genomes] |
| rs2048934 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34054060 | 0.83[EUR][1000 genomes] |
| rs34144010 | 0.86[EUR][1000 genomes] |
| rs34464539 | 1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs35168234 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs4387830 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4574146 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6749313 | 0.80[EUR][1000 genomes] |
| rs7557098 | 0.83[EUR][1000 genomes] |
| rs7567650 | 0.83[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv873728 | chr2:21250914-21460786 | Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:21416200-21424400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr2:21418600-21422800 | Weak transcription | Fetal Intestine Large | intestine |
