Variant report
| Variant | rs8043258 |
|---|---|
| Chromosome Location | chr15:45857309-45857310 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000260170 | Chromatin interaction |
| ENSG00000104164 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:4)
| rs_ID | r2[population] |
|---|---|
| rs1153835 | 0.84[CHB][hapmap] |
| rs1153845 | 0.92[CHB][hapmap] |
| rs1547487 | 0.92[CHB][hapmap] |
| rs950027 | 0.82[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.93[MKK][hapmap] |
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 | nsv932147 | chr15:45319178-45872076 | Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 87 gene(s) | inside rSNPs | diseases |
| 2 | nsv1045556 | chr15:45777396-45884854 | Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 38 gene(s) | inside rSNPs | diseases |
| 3 | nsv904188 | chr15:45801035-45941689 | Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 4 | nsv904189 | chr15:45821158-46298458 | Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 58 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:7)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs8043258 | SLC28A2 | cis | cerebellum | SCAN |
| rs8043258 | FAM82A2 | cis | cerebellum | SCAN |
| rs8043258 | CHST14 | cis | parietal | SCAN |
| rs8043258 | CTD-2651B20.3 | cis | Artery Tibial | GTEx |
| rs8043258 | GATM | cis | parietal | SCAN |
| rs8043258 | GATM | cis | cerebellum | SCAN |
| rs8043258 | BMF | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:45856600-45857400 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
