Variant report
| Variant | rs2684854 |
|---|---|
| Chromosome Location | chr18:44792704-44792705 |
| 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] |
|---|---|
| rs12326579 | 0.81[ASN][1000 genomes] |
| rs16950348 | 0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs16950349 | 0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2668765 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2668766 | 0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2668769 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2668773 | 1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2668774 | 0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2668775 | 0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs2684815 | 0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2684816 | 0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2684827 | 0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2684828 | 0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2684829 | 1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2684844 | 0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2684848 | 0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2684849 | 0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2684850 | 0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2684855 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2684856 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs56313614 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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 | nsv828226 | chr18:44762014-44801196 | Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 2 | esv1819372 | chr18:44774673-44799515 | Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2684854 | HDHD2 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:44792600-44793000 | Genic enhancers | Muscle Satellite Cultured Cells | -- |
