Variant report
Variant | rs4448731 |
---|---|
Chromosome Location | chr12:72329106-72329107 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:3 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000080371 | Chromatin interaction |
ENSG00000139287 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10748185 | 0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10748186 | 0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10784941 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs11178994 | 0.89[ASN][1000 genomes] |
rs11178999 | 0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs11179000 | 0.91[JPT][hapmap] |
rs4131347 | 0.81[ASN][1000 genomes] |
rs4448732 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4565946 | 0.85[CEU][hapmap];0.80[EUR][1000 genomes] |
rs4570625 | 0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs4641527 | 0.89[ASN][1000 genomes] |
rs6582071 | 0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1048478 | chr12:72145703-72401712 | Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 13 gene(s) | inside rSNPs | diseases |
2 | nsv541530 | chr12:72145703-72401712 | Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 13 gene(s) | inside rSNPs | diseases |
3 | nsv518498 | chr12:72307616-72508779 | Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
4 | nsv1054578 | chr12:72307616-72509341 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:72317400-72332600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |