Variant report
| Variant | rs12332430 |
|---|---|
| Chromosome Location | chr5:147550297-147550298 |
| 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 | chr5:147548616..147550600-chr5:147763434..147764997,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000145868 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs10036424 | 0.89[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs10044836 | 0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs10062731 | 1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs10066701 | 0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs10476890 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap] |
| rs28459444 | 0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs35337710 | 0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61646781 | 0.89[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs73795014 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7710833 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv883015 | chr5:147404281-147751035 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv830515 | chr5:147460852-147602247 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | esv3354986 | chr5:147549159-147550307 | Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | inside rSNPs | n/a |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
