Variant report
| Variant | rs17570453 |
|---|---|
| Chromosome Location | chr1:168748586-168748587 |
| 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 | chr1:168747417..168750156-chr12:72016163..72018926,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11582358 | 0.91[ASN][1000 genomes] |
| rs11583049 | 0.91[ASN][1000 genomes] |
| rs12564363 | 0.87[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12567397 | 0.91[AFR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12569208 | 0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2066895 | 0.91[ASN][1000 genomes] |
| rs3738241 | 0.91[ASN][1000 genomes] |
| rs3738242 | 0.91[ASN][1000 genomes] |
| rs56032568 | 0.91[ASN][1000 genomes] |
| rs59454169 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6686124 | 0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs72703566 | 0.85[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7544863 | 0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.92[TSI][hapmap];0.91[ASN][1000 genomes] |
| rs926432 | 0.83[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.91[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv869415 | chr1:168467284-169153863 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 44 gene(s) | inside rSNPs | diseases |
| 2 | nsv831847 | chr1:168669877-168850129 | Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs17570453 | BRP44 | cis | brain | BrainEAC |
| rs17570453 | SLC19A2 | cis | brain | BrainEAC |
Chromatin state (count:0 , 50 per page) page:
| No data |
