Variant report
| Variant | rs16840385 |
|---|---|
| Chromosome Location | chr1:158578690-158578691 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:158575370..158577839-chr1:158577850..158580110,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000198967 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs10489838 | 1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11801809 | 1.00[CEU][hapmap] |
| rs16830483 | 1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16840418 | 1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes] |
| rs16840423 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs16840429 | 1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs41273515 | 0.94[EUR][1000 genomes] |
| rs41523545 | 1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs4656290 | 1.00[CEU][hapmap] |
| rs7514181 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs7514285 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs7514536 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs7529045 | 1.00[CEU][hapmap] |
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 | esv3491788 | chr1:158537183-158725907 | Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | esv3491789 | chr1:158537242-158725858 | Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs16840385 | FZD1 | trans | brain | seeQTL |
| rs16840385 | KLK1 | trans | brain | seeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:158578600-158579400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
