Variant report
| Variant | rs12280738 |
|---|---|
| Chromosome Location | chr11:45157731-45157732 |
| allele | G/T |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:45155420..45158264-chr11:45164649..45168555,5 | K562 | blood: | |
| 2 | chr11:45153527..45160380-chr11:45165355..45169670,10 | MCF-7 | breast: | |
| 3 | chr11:45141259..45143495-chr11:45154866..45157797,2 | MCF-7 | breast: | |
| 4 | chr11:45156473..45158186-chr11:45161374..45164148,2 | K562 | blood: | |
| 5 | chr11:45155937..45158191-chr11:45167233..45169516,2 | MCF-7 | breast: | |
| 6 | chr11:45155420..45158264-chr11:45165357..45168555,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000019485 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11038320 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11038322 | 1.00[AMR][1000 genomes] |
| rs11038326 | 1.00[AMR][1000 genomes] |
| rs12275470 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12275518 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12275684 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12296068 | 1.00[AMR][1000 genomes] |
| rs57536136 | 1.00[AMR][1000 genomes] |
| rs60845464 | 1.00[AMR][1000 genomes] |
| rs73464554 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73464561 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73464565 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73464579 | 1.00[AMR][1000 genomes] |
| rs73464580 | 1.00[AMR][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 | nsv825852 | chr11:45141386-45228580 | Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv541025 | chr11:45154352-45193352 | Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 9 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
