Variant report
| Variant | rs12580536 |
|---|---|
| Chromosome Location | chr12:124352420-124352421 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:124349873..124352616-chr12:124471983..124473527,2 | MCF-7 | breast: | |
| 2 | chr12:124351615..124353844-chr12:124456020..124457584,2 | MCF-7 | breast: | |
| 3 | chr12:124351595..124353635-chr12:124356736..124359144,2 | K562 | blood: | |
| 4 | chr12:124344617..124346181-chr12:124350078..124352593,2 | K562 | blood: | |
| 5 | chr12:124350568..124353635-chr12:124356736..124359633,3 | K562 | blood: | |
| 6 | chr12:124332831..124334511-chr12:124351979..124354225,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000179195 | Chromatin interaction |
| ENSG00000119242 | Chromatin interaction |
| ENSG00000270095 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs11833130 | 0.94[ASN][1000 genomes] |
| rs11834289 | 1.00[ASN][1000 genomes] |
| rs12579670 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12580578 | 1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12580590 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs12581508 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12581919 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1922255 | 0.89[ASN][1000 genomes] |
| rs1922256 | 0.92[ASN][1000 genomes] |
| rs57190253 | 1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs58643005 | 0.94[ASN][1000 genomes] |
| rs59689760 | 0.92[ASN][1000 genomes] |
| rs60383738 | 0.94[ASN][1000 genomes] |
| rs60712952 | 1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs61732737 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7315108 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7315579 | 1.00[ASN][1000 genomes] |
| rs73422750 | 0.94[ASN][1000 genomes] |
| rs73422756 | 0.94[ASN][1000 genomes] |
| rs7961767 | 0.94[ASN][1000 genomes] |
| rs7969440 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes] |
| rs7969937 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes] |
| rs7977449 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7979227 | 0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv498024 | chr12:123994372-124459856 | Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 63 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:124331400-124352800 | Weak transcription | Fetal Brain Female | brain |
| 2 | chr12:124352200-124354200 | Enhancers | Fetal Brain Male | brain |
