Variant report
| Variant | rs7303166 |
|---|---|
| Chromosome Location | chr12:67392894-67392895 |
| allele | C/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:67390978..67393668-chr12:67401763..67404161,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs1008948 | 1.00[JPT][hapmap] |
| rs11832437 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11837271 | 0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12427045 | 1.00[ASN][1000 genomes] |
| rs1995505 | 0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4129263 | 0.94[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs4913312 | 1.00[ASN][1000 genomes] |
| rs61918818 | 1.00[ASN][1000 genomes] |
| rs61918819 | 1.00[ASN][1000 genomes] |
| rs61918820 | 1.00[ASN][1000 genomes] |
| rs61918821 | 1.00[ASN][1000 genomes] |
| rs7132109 | 1.00[ASN][1000 genomes] |
| rs7132504 | 0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7136539 | 0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7316556 | 0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7958160 | 0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7960783 | 0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7960930 | 1.00[ASN][1000 genomes] |
| rs7963009 | 1.00[ASN][1000 genomes] |
| rs7972805 | 0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs956004 | 0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1036984 | chr12:67273098-67427543 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription | Chromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv541524 | chr12:67311057-67700349 | Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 3 | nsv1040723 | chr12:67329322-67396230 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv525987 | chr12:67336812-67394408 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv559210 | chr12:67339554-67398938 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 6 | nsv1040543 | chr12:67345920-67395598 | Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 7 | nsv1041160 | chr12:67357870-67439696 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 8 | nsv469462 | chr12:67361657-67475906 | Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 9 | nsv559211 | chr12:67361657-67475906 | Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 10 | nsv559212 | chr12:67373549-67850925 | Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 11 | nsv972990 | chr12:67391367-67394337 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:67390800-67393000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 2 | chr12:67390800-67394800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 3 | chr12:67392600-67411800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr12:67392800-67393600 | Enhancers | Colon Smooth Muscle | Colon |
