Variant report
Variant | rs441540 |
---|---|
Chromosome Location | chr20:14470659-14470660 |
allele | C/T |
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 | chr20:14469605..14471318-chr20:14479870..14481906,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
MACROD2 | TF binding region |
rs_ID | r2[population] |
---|---|
rs13036305 | 1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs13036870 | 1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs13037403 | 1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs13037982 | 1.00[CEU][hapmap] |
rs13039094 | 1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs13039304 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs13040047 | 1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs13042875 | 0.86[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs13043292 | 0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs13043921 | 0.83[CEU][hapmap] |
rs17227062 | 0.86[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs17812701 | 1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs17812707 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs17812713 | 0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs17812749 | 0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs1815494 | 0.89[YRI][hapmap] |
rs1998103 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs1998104 | 0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs2327859 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs2423789 | 0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2423795 | 0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2423796 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2423797 | 0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2423798 | 0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2423799 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2423801 | 0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs34202312 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs34366310 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs35658161 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs36023726 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs365225 | 0.95[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs365792 | 1.00[YRI][hapmap] |
rs366944 | 0.91[YRI][hapmap] |
rs373874 | 0.93[CEU][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs376577 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs376972 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs377610 | 1.00[YRI][hapmap];0.88[AFR][1000 genomes] |
rs384498 | 0.95[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs391092 | 0.85[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs398372 | 0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs405620 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs405993 | 0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs406307 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs406441 | 0.86[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs407908 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs408176 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs412345 | 0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs416436 | 0.95[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs420299 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs420629 | 1.00[YRI][hapmap];0.88[AFR][1000 genomes] |
rs429495 | 0.95[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs429643 | 0.89[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs430452 | 0.95[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs436322 | 0.88[CEU][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs441647 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs475471 | 0.95[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs4814304 | 0.92[YRI][hapmap] |
rs4814307 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs6042732 | 0.93[YRI][hapmap] |
rs6079442 | 0.93[YRI][hapmap] |
rs6079476 | 0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs6110316 | 0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs62202873 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs915076 | 0.91[YRI][hapmap] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1055499 | chr20:14224873-14848061 | Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
2 | nsv1064721 | chr20:14384931-14648223 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
3 | nsv833926 | chr20:14410153-14572336 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
4 | nsv585442 | chr20:14420556-14485947 | Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
5 | nsv1065426 | chr20:14426642-14478256 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
6 | nsv1059770 | chr20:14432394-14549781 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
7 | nsv544187 | chr20:14432394-14549781 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
8 | nsv529577 | chr20:14434373-14799157 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:14460800-14477600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr20:14462600-14488400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr20:14469200-14471400 | Enhancers | HUVEC | blood vessel |
4 | chr20:14470000-14471200 | Weak transcription | Stomach Mucosa | stomach |
5 | chr20:14470200-14471000 | Weak transcription | Hela-S3 | cervix |