Variant report
| Variant | rs4931687 |
|---|---|
| Chromosome Location | chr12:33270199-33270200 |
| 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 | chr12:33245520..33247527-chr12:33268044..33270867,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs11052506 | 0.93[ASN][1000 genomes] |
| rs12423297 | 0.85[CHB][hapmap];0.93[ASN][1000 genomes] |
| rs12425992 | 0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12427282 | 0.96[ASN][1000 genomes] |
| rs1445313 | 0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs17555138 | 0.96[ASN][1000 genomes] |
| rs4931058 | 0.96[ASN][1000 genomes] |
| rs4931700 | 0.93[ASN][1000 genomes] |
| rs55801348 | 0.96[ASN][1000 genomes] |
| rs61927363 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61928811 | 1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs61928812 | 0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs61928813 | 0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs61928820 | 0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61928821 | 0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9989005 | 0.93[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 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 | nsv530421 | chr12:32825335-33465991 | Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv832367 | chr12:33063644-33298967 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 3 | nsv1053849 | chr12:33132909-33279169 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv1044931 | chr12:33179957-33307362 | Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv1046565 | chr12:33252166-33294648 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 6 | nsv1035521 | chr12:33265578-33293907 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:33268200-33270400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr12:33269400-33270400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
