Variant report
| Variant | rs11057521 |
|---|---|
| Chromosome Location | chr12:124700323-124700324 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:124688677..124690581-chr12:124697993..124700796,2 | K562 | blood: | |
| 2 | chr12:124699998..124702451-chr12:124704383..124708826,4 | K562 | blood: | |
| 3 | chr12:124677047..124679151-chr12:124697605..124700364,2 | MCF-7 | breast: | |
| 4 | chr12:124699930..124701619-chr12:124701941..124703686,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10744165 | 1.00[ASN][1000 genomes] |
| rs11057471 | 1.00[ASN][1000 genomes] |
| rs12809315 | 1.00[ASN][1000 genomes] |
| rs12813142 | 1.00[ASN][1000 genomes] |
| rs12827974 | 1.00[ASN][1000 genomes] |
| rs12832596 | 1.00[ASN][1000 genomes] |
| rs35660813 | 1.00[ASN][1000 genomes] |
| rs7136170 | 1.00[ASN][1000 genomes] |
| rs7300551 | 1.00[ASN][1000 genomes] |
| rs7302202 | 1.00[ASN][1000 genomes] |
| rs7312585 | 1.00[ASN][1000 genomes] |
| rs7315307 | 1.00[ASN][1000 genomes] |
| rs7961727 | 1.00[ASN][1000 genomes] |
| rs7962075 | 1.00[ASN][1000 genomes] |
| rs7971227 | 1.00[ASN][1000 genomes] |
| rs7975859 | 1.00[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 | nsv455734 | chr12:124511908-124772515 | Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 2 | nsv560538 | chr12:124511908-124772515 | Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:14)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11057521 | NCOR2 | cis | brain | BrainEAC |
| rs11057521 | GTF2H3 | cis | brain | BrainEAC |
| rs11057521 | SCARB1 | cis | brain | BrainEAC |
| rs11057521 | DNAH10 | cis | brain | BrainEAC |
| rs11057521 | SBNO1,LOC728046 | cis | occipital cortex | BrainEAC |
| rs11057521 | CCDC92 | cis | brain | BrainEAC |
| rs11057521 | TMED2 | cis | brain | BrainEAC |
| rs11057521 | BRI3BP | cis | brain | BrainEAC |
| rs11057521 | MPHOSPH9 | cis | brain | BrainEAC |
| rs11057521 | EIF2B1 | cis | brain | BrainEAC |
| rs11057521 | SBNO1,LOC728046 | cis | brain | BrainEAC |
| rs11057521 | ATP6V0A2 | cis | brain | BrainEAC |
| rs11057521 | AACS,LOC100129380 | cis | brain | BrainEAC |
| rs11057521 | TCTN2 | cis | brain | BrainEAC |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:124689000-124702000 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr12:124699800-124700600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
