Variant report
| Variant | rs1495042 |
|---|---|
| Chromosome Location | chr12:45434386-45434387 |
| 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] |
|---|---|
| rs10880718 | 0.81[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs10880730 | 0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs11182801 | 0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes] |
| rs11182810 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11182811 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1118481 | 0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs1224436 | 0.85[EUR][1000 genomes] |
| rs1495033 | 0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1495034 | 0.88[EUR][1000 genomes] |
| rs1495035 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1495036 | 0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2408140 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2544102 | 0.93[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes] |
| rs2643140 | 0.89[CEU][hapmap];0.85[EUR][1000 genomes] |
| rs2731040 | 0.84[EUR][1000 genomes] |
| rs2731053 | 0.85[EUR][1000 genomes] |
| rs2731054 | 0.85[EUR][1000 genomes] |
| rs4140696 | 0.88[EUR][1000 genomes] |
| rs4285943 | 0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs4561266 | 0.96[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes] |
| rs7964973 | 0.90[EUR][1000 genomes];0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3351644 | chr12:45345597-45529449 | Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv1045857 | chr12:45351172-45468784 | Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv541485 | chr12:45351172-45468784 | Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1495042 | CCL1 | trans | cerebellum | SCAN |
| rs1495042 | RP11-478B9.2 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs1495042 | DBX2 | cis | Skin Sun Exposed Lower leg | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:45433800-45436800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
