Variant report
| Variant | rs57266144 |
|---|---|
| Chromosome Location | chr1:184988884-184988885 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:184987937..184990442-chr1:185124992..185126944,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RNA5SP72 | TF binding region |
| ENSG00000116668 | Chromatin interaction |
| ENSG00000121486 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10429841 | 1.00[AMR][1000 genomes] |
| rs10489582 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs10494582 | 1.00[EUR][1000 genomes] |
| rs12024255 | 1.00[EUR][1000 genomes] |
| rs12026308 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs12033761 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12037199 | 1.00[EUR][1000 genomes] |
| rs12038977 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12041641 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12045533 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12240005 | 1.00[EUR][1000 genomes] |
| rs16823734 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs16823736 | 0.87[AMR][1000 genomes] |
| rs16823739 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16823862 | 1.00[EUR][1000 genomes] |
| rs2025228 | 1.00[EUR][1000 genomes] |
| rs2144664 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs34769115 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs41377350 | 1.00[EUR][1000 genomes] |
| rs61146985 | 0.90[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs61379702 | 1.00[EUR][1000 genomes] |
| rs61537994 | 1.00[EUR][1000 genomes] |
| rs61573899 | 1.00[EUR][1000 genomes] |
| rs6698620 | 1.00[EUR][1000 genomes] |
| rs7516303 | 1.00[EUR][1000 genomes] |
| rs7540216 | 1.00[EUR][1000 genomes] |
| rs953701 | 1.00[EUR][1000 genomes] |
| rs953702 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1001323 | chr1:184525419-185315876 | Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 69 gene(s) | inside rSNPs | diseases |
| 2 | nsv535222 | chr1:184525419-185315876 | Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 69 gene(s) | inside rSNPs | diseases |
| 3 | nsv525731 | chr1:184812165-185038104 | Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 4 | nsv522073 | chr1:184986725-185013349 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:184988600-184989200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
