Variant report
| Variant | rs2489650 |
|---|---|
| Chromosome Location | chr1:209504905-209504906 |
| 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 | chr1:209503544..209505316-chr1:209505680..209508263,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs1395749 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1395750 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1542981 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs1553623 | 0.89[ASN][1000 genomes] |
| rs17188128 | 0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs17188142 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs2245283 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2245287 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs2489649 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs2660637 | 0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2843169 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs56375933 | 0.86[EUR][1000 genomes] |
| rs6700119 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs72756413 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs72756439 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs72756445 | 0.88[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs976940 | 0.91[AFR][1000 genomes];0.89[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 | nsv832481 | chr1:209371276-209540333 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv832492 | chr1:209383771-209589312 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:209500600-209505800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
