Variant report
| Variant | rs2162420 |
|---|---|
| Chromosome Location | chr8:67252300-67252301 |
| 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:32)
| rs_ID | r2[population] |
|---|---|
| rs10095385 | 0.87[ASN][1000 genomes] |
| rs17404672 | 1.00[ASN][1000 genomes] |
| rs17405528 | 1.00[CHD][hapmap];0.91[MEX][hapmap] |
| rs2114487 | 0.99[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2433594 | 1.00[CHD][hapmap];0.85[MEX][hapmap] |
| rs2433596 | 1.00[CHD][hapmap] |
| rs2465983 | 1.00[CHD][hapmap];0.85[MEX][hapmap] |
| rs2555573 | 1.00[CHD][hapmap];0.85[MEX][hapmap] |
| rs2555576 | 1.00[CHD][hapmap];0.92[MEX][hapmap] |
| rs2555586 | 1.00[CHD][hapmap] |
| rs2718989 | 1.00[CHD][hapmap];0.85[MEX][hapmap] |
| rs2718998 | 1.00[CHD][hapmap];0.85[MEX][hapmap] |
| rs56332328 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56747323 | 1.00[ASN][1000 genomes] |
| rs57935379 | 1.00[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs58055402 | 0.87[ASN][1000 genomes] |
| rs62511161 | 0.87[ASN][1000 genomes] |
| rs62511946 | 0.87[ASN][1000 genomes] |
| rs62511948 | 0.87[ASN][1000 genomes] |
| rs62511950 | 0.87[ASN][1000 genomes] |
| rs62511951 | 0.87[ASN][1000 genomes] |
| rs6472272 | 0.87[ASN][1000 genomes] |
| rs6984456 | 0.87[ASN][1000 genomes] |
| rs7002496 | 0.87[ASN][1000 genomes] |
| rs7010555 | 0.87[ASN][1000 genomes] |
| rs7014306 | 1.00[CHD][hapmap] |
| rs7015255 | 1.00[JPT][hapmap] |
| rs73691528 | 1.00[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7813259 | 0.87[ASN][1000 genomes] |
| rs7834793 | 0.87[ASN][1000 genomes] |
| rs7846153 | 1.00[ASN][1000 genomes] |
| rs9693831 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3446467 | chr8:66749863-67667068 | Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 73 gene(s) | inside rSNPs | diseases |
| 2 | esv3414665 | chr8:66936816-67381935 | Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:6)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2162420 | ADHFE1 | cis | Nerve Tibial | GTEx |
| rs2162420 | ADHFE1 | cis | parietal | SCAN |
| rs2162420 | ADHFE1 | cis | Esophagus Mucosa | GTEx |
| rs2162420 | ADHFE1 | cis | Artery Tibial | GTEx |
| rs2162420 | ADHFE1 | cis | cerebellum | SCAN |
| rs2162420 | ADHFE1 | cis | Thyroid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:67250800-67252800 | Enhancers | Placenta | Placenta |
