Variant report
| Variant | rs12053661 |
|---|---|
| Chromosome Location | chr21:16145158-16145159 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr21:16145031-16145382 | MCF10A-Er-Src | breast: | n/a | n/a |
| 2 | EP300 | chr21:16144974-16145164 | K562 | blood: | n/a | n/a |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr21:16131213..16134500-chr21:16143323..16145254,3 | MCF-7 | breast: | |
| 2 | chr21:16143951..16146224-chr21:16159304..16162772,3 | K562 | blood: | |
| 3 | chr21:16142841..16145561-chr21:16145912..16150073,3 | K562 | blood: | |
| 4 | chr21:16144518..16147487-chr21:16436685..16438487,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| GAPDHP16 | TF binding region |
| ENSG00000180530 | Chromatin interaction |
| ENSG00000225502 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs12053660 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs12053685 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12481742 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs13046559 | 1.00[ASN][1000 genomes] |
| rs13050196 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs13052551 | 1.00[CHB][hapmap] |
| rs17241011 | 0.87[AMR][1000 genomes] |
| rs2011512 | 1.00[CHB][hapmap];0.88[JPT][hapmap] |
| rs2026844 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs2094859 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2822924 | 0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs2822928 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs2822929 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs2822930 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs2822932 | 1.00[CHB][hapmap];0.89[JPT][hapmap] |
| rs2822934 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs2822950 | 0.84[CHB][hapmap] |
| rs57323609 | 0.87[AMR][1000 genomes] |
| rs57530452 | 0.87[AMR][1000 genomes] |
| rs59113791 | 0.87[AMR][1000 genomes] |
| rs61161554 | 0.87[AMR][1000 genomes] |
| rs7277958 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs9636851 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs9976399 | 1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs9984950 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:16143400-16146200 | Enhancers | K562 | blood |
| 2 | chr21:16144000-16145200 | Enhancers | Primary T cells from cord blood | blood |
