Variant report
| Variant | rs2052014 |
|---|---|
| Chromosome Location | chr14:72487817-72487818 |
| allele | A/G |
| 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:29)
| rs_ID | r2[population] |
|---|---|
| rs10131317 | 0.84[ASN][1000 genomes] |
| rs10483838 | 0.85[CHD][hapmap];0.93[JPT][hapmap] |
| rs11158929 | 0.91[EUR][1000 genomes] |
| rs11844049 | 0.91[ASN][1000 genomes] |
| rs11850350 | 0.80[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11852205 | 0.91[ASN][1000 genomes] |
| rs2190868 | 0.89[EUR][1000 genomes] |
| rs2190870 | 0.86[EUR][1000 genomes] |
| rs2238266 | 0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs2239266 | 0.85[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes] |
| rs2332706 | 0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap] |
| rs28450218 | 0.84[ASN][1000 genomes] |
| rs28644384 | 0.84[ASN][1000 genomes] |
| rs28718774 | 0.85[ASN][1000 genomes] |
| rs2877776 | 0.89[EUR][1000 genomes] |
| rs3784054 | 0.82[CHD][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes] |
| rs41389946 | 0.85[CHD][hapmap];0.93[JPT][hapmap] |
| rs41488847 | 0.85[CHD][hapmap];0.93[JPT][hapmap] |
| rs4899413 | 0.84[ASN][1000 genomes] |
| rs4899414 | 0.92[CEU][hapmap];0.91[EUR][1000 genomes] |
| rs4902972 | 0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs59707038 | 0.85[ASN][1000 genomes] |
| rs757598 | 0.88[EUR][1000 genomes] |
| rs758235 | 1.00[CEU][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes] |
| rs8003097 | 1.00[CEU][hapmap];0.88[EUR][1000 genomes] |
| rs8017221 | 0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs8017353 | 0.88[EUR][1000 genomes] |
| rs8017799 | 0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs966815 | 0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[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 | nsv530794 | chr14:72113818-73034008 | Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv948800 | chr14:72462557-73150701 | Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv1053520 | chr14:72485195-72537202 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2052014 | WDR69 | trans | parietal | SCAN |
| rs2052014 | FAM71D | cis | parietal | SCAN |
| rs2052014 | PIGH | cis | cerebellum | SCAN |
| rs2052014 | ACYP1 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:72481000-72489200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 2 | chr14:72482400-72489400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 3 | chr14:72487800-72489200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
