Variant report
| Variant | rs1986503 |
|---|---|
| Chromosome Location | chr12:60815272-60815273 |
| allele | A/G |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:60809569..60811831-chr12:60814159..60815747,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs12422791 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12426853 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12581330 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2062866 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs4448720 | 0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs4462385 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs4639967 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs73125277 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs73125280 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7958827 | 1.00[CEU][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs7958861 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][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 | nsv1054287 | chr12:60601870-60861866 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv1047466 | chr12:60702221-61521156 | Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv832432 | chr12:60801619-60968907 | Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1986503 | OR10P1 | cis | parietal | SCAN |
| rs1986503 | OR6C75 | cis | parietal | SCAN |
| rs1986503 | FAM119B | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:60810400-60819400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
