Variant report
Variant | rs2830755 |
---|---|
Chromosome Location | chr21:28552974-28552975 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
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No data |
rs_ID | r2[population] |
---|---|
rs12483048 | 0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12483067 | 0.92[ASN][1000 genomes] |
rs1676549 | 0.83[ASN][1000 genomes] |
rs2830727 | 0.81[MKK][hapmap] |
rs2830741 | 0.86[ASN][1000 genomes] |
rs2830742 | 0.83[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2830743 | 0.92[ASN][1000 genomes] |
rs2830744 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2830749 | 0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2830752 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs718136 | 0.84[AMR][1000 genomes];0.96[ASN][1000 genomes] |
rs8134462 | 0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs969988 | 0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9974335 | 0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1067475 | chr21:28238746-29046707 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
2 | nsv459229 | chr21:28543456-29482488 | Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
3 | nsv587342 | chr21:28543456-29482488 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
4 | nsv459231 | chr21:28543715-28563495 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | n/a |
5 | nsv587343 | chr21:28543715-28563495 | Weak transcription Enhancers Flanking Active TSS | n/a | n/a | inside rSNPs | n/a |
6 | nsv834070 | chr21:28546745-28709950 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr21:28544800-28562200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |