Variant report
| Variant | rs12608530 |
|---|---|
| Chromosome Location | chr19:41588347-41588348 |
| 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 | chr19:41563480..41565776-chr19:41588166..41589708,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs11879517 | 0.87[EUR][1000 genomes] |
| rs11879521 | 0.87[EUR][1000 genomes] |
| rs12460311 | 0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12460312 | 0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12460939 | 0.87[EUR][1000 genomes] |
| rs305990 | 0.89[ASN][1000 genomes] |
| rs305992 | 0.89[ASN][1000 genomes] |
| rs305996 | 0.89[ASN][1000 genomes] |
| rs3745284 | 0.87[EUR][1000 genomes] |
| rs58894601 | 0.87[EUR][1000 genomes] |
| rs59191000 | 0.87[EUR][1000 genomes] |
| rs59797778 | 0.87[EUR][1000 genomes] |
| rs59812390 | 0.87[EUR][1000 genomes] |
| rs61280220 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73545059 | 0.87[EUR][1000 genomes] |
| rs73545060 | 0.87[EUR][1000 genomes] |
| rs73545063 | 0.87[EUR][1000 genomes] |
| rs73545069 | 0.87[EUR][1000 genomes] |
| rs73545072 | 0.87[EUR][1000 genomes] |
| rs73563325 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs8192784 | 0.85[ASN][1000 genomes] |
| rs8192789 | 0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 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 | nsv1066637 | chr19:41309211-41597896 | Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 2 | nsv1065684 | chr19:41516389-41644542 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv2491 | chr19:41560948-41604222 | Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:41586400-41594800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
