Variant report
Variant | rs2048504 |
---|---|
Chromosome Location | chr20:53470826-53470827 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:6 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr20:53469992..53472672-chr20:53482676..53485188,2 | MCF-7 | breast: | |
2 | chr20:53469608..53471175-chr20:53474621..53476655,2 | MCF-7 | breast: | |
3 | chr20:53467255..53472616-chr20:53474478..53478474,4 | MCF-7 | breast: | |
4 | chr20:53465234..53466924-chr20:53468831..53471072,3 | MCF-7 | breast: | |
5 | chr20:53458657..53461544-chr20:53468848..53472413,4 | MCF-7 | breast: | |
6 | chr20:53461969..53462960-chr20:53470530..53471462,2 | MCF-7 | breast: |
(count:1 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CYP24A1-2 | chr20:53470281-53472307 | NONHSAT080421 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000252089 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs1398113 | 0.83[EUR][1000 genomes] |
rs1512065 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs2025128 | 0.88[EUR][1000 genomes] |
rs2025129 | 0.89[EUR][1000 genomes] |
rs2063519 | 0.89[EUR][1000 genomes] |
rs431022 | 0.89[CEU][hapmap] |
rs4811538 | 0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs4811542 | 0.80[EUR][1000 genomes] |
rs6014185 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs6023624 | 0.94[EUR][1000 genomes] |
rs6023625 | 0.80[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs6023640 | 0.89[EUR][1000 genomes] |
rs6023645 | 1.00[CEU][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs6023649 | 0.88[EUR][1000 genomes] |
rs6023655 | 0.85[CEU][hapmap];0.85[EUR][1000 genomes] |
rs6023669 | 0.83[EUR][1000 genomes] |
rs6023673 | 0.82[EUR][1000 genomes] |
rs6064117 | 0.87[EUR][1000 genomes] |
rs6064129 | 0.81[EUR][1000 genomes] |
rs6069016 | 0.85[EUR][1000 genomes] |
rs6123426 | 0.84[EUR][1000 genomes] |
rs6127310 | 0.84[EUR][1000 genomes] |
rs912507 | 0.93[CEU][hapmap];0.98[EUR][1000 genomes] |
rs912510 | 0.83[EUR][1000 genomes] |
rs912511 | 0.83[EUR][1000 genomes] |
rs912512 | 0.84[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1067497 | chr20:53146241-53751820 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 66 gene(s) | inside rSNPs | diseases |
2 | nsv1064144 | chr20:53175264-53750137 | Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 66 gene(s) | inside rSNPs | diseases |
3 | nsv544302 | chr20:53175264-53750137 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 66 gene(s) | inside rSNPs | diseases |
4 | nsv1060552 | chr20:53234716-53655115 | Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 54 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:53467600-53478000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |