Variant report
| Variant | rs996546 |
|---|---|
| Chromosome Location | chr13:40440310-40440311 |
| 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:21)
| rs_ID | r2[population] |
|---|---|
| rs12862721 | 0.94[ASN][1000 genomes] |
| rs12866856 | 0.89[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes] |
| rs1555629 | 0.93[ASN][1000 genomes] |
| rs2209234 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2324458 | 0.97[ASN][1000 genomes] |
| rs2875347 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2985239 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs2985248 | 0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs3012139 | 0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs35781607 | 0.92[ASN][1000 genomes] |
| rs4941945 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7139604 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap] |
| rs7327167 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap] |
| rs912418 | 0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs912421 | 0.97[ASN][1000 genomes] |
| rs9548944 | 0.91[EUR][1000 genomes] |
| rs9566480 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9576907 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs9603632 | 0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9603634 | 0.94[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs968130 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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 | nsv1054600 | chr13:39801283-40545027 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv1054797 | chr13:40198744-40618428 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 10 gene(s) | inside rSNPs | diseases |
| 3 | nsv541755 | chr13:40198744-40618428 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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 | 10 gene(s) | inside rSNPs | diseases |
| 4 | nsv1040458 | chr13:40249387-40638129 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:40439800-40441000 | Enhancers | Fetal Heart | heart |
| 2 | chr13:40440000-40441800 | Weak transcription | HUVEC | blood vessel |
