Variant report
Variant | rs66948543 |
---|---|
Chromosome Location | chr3:112622317-112622318 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:112622166..112623673-chr3:112626677..112629494,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs11928072 | 0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs12631307 | 0.99[ASN][1000 genomes] |
rs12634138 | 0.81[ASN][1000 genomes] |
rs12634629 | 0.93[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs1919015 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs2399438 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2399439 | 0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs2399440 | 0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs4682121 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4682123 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4682124 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs4682439 | 0.95[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs4682446 | 0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs66732921 | 0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs67184855 | 0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs67562655 | 0.87[AFR][1000 genomes];0.87[AMR][1000 genomes] |
rs6781132 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6802964 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72950393 | 0.99[ASN][1000 genomes] |
rs72950395 | 0.99[ASN][1000 genomes] |
rs73225776 | 0.95[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs73227704 | 0.95[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs73227765 | 0.93[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs7634588 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3431441 | chr3:112453467-113213252 | Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 43 gene(s) | inside rSNPs | diseases |
2 | esv3501334 | chr3:112546820-112648766 | Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
3 | esv3501335 | chr3:112546820-112648766 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:112619400-112623400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |