Variant report
| Variant | rs12407753 |
|---|---|
| Chromosome Location | chr1:168750460-168750461 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:168734613..168736661-chr1:168749781..168751775,2 | K562 | blood: | |
| 2 | chr1:168750443..168753211-chr1:169074233..169077019,2 | MCF-7 | breast: | |
| 3 | chr1:168745883..168748242-chr1:168750356..168753264,2 | MCF-7 | breast: | |
| 4 | chr1:168742365..168745315-chr1:168750346..168752707,2 | MCF-7 | breast: | |
| 5 | chr1:168742907..168744935-chr1:168749748..168752648,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000143153 | Chromatin interaction |
| ENSG00000235736 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs12239491 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12405834 | 1.00[EUR][1000 genomes] |
| rs12405968 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12407010 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12410966 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1322500 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13375532 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs16861687 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs59682281 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61567478 | 1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs74123028 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs74123029 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs74123030 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs74123031 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs74123035 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs74123036 | 1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7525887 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7547710 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7548313 | 1.00[CHB][hapmap];0.92[ASN][1000 genomes] |
| rs7548404 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs857646 | 0.92[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 | nsv869415 | chr1:168467284-169153863 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 44 gene(s) | inside rSNPs | diseases |
| 2 | nsv831847 | chr1:168669877-168850129 | Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:168750400-168751000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
