Variant report
| Variant | rs72686288 |
|---|---|
| Chromosome Location | chr1:47929370-47929371 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:47902221..47904815-chr1:47929260..47931018,2 | K562 | blood: | |
| 2 | chr1:47923815..47926431-chr1:47927655..47930925,3 | K562 | blood: | |
| 3 | chr1:47921416..47925301-chr1:47925972..47930425,4 | K562 | blood: | |
| 4 | chr1:47927907..47930707-chr1:47937413..47940085,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs11590933 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12239450 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17103227 | 0.85[ASN][1000 genomes] |
| rs17103249 | 0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs17103260 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2279277 | 0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs3738316 | 0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs55806846 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs55834028 | 0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs56011601 | 0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs56235005 | 0.88[ASN][1000 genomes] |
| rs59586402 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61412699 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6695969 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72686267 | 0.80[ASN][1000 genomes] |
| rs72686279 | 0.94[EUR][1000 genomes];0.92[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 | nsv1001779 | chr1:47884229-48111485 | Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv871299 | chr1:47889417-48057890 | Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 3 | esv2755190 | chr1:47907580-48048680 | Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:47925800-47934200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
