Variant report

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1033860	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1118572	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1980702	1.00[AMR][1000 genomes]
rs2327828	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2423771	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2423776	1.00[AMR][1000 genomes]
rs3121496	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3848782	1.00[YRI][hapmap]
rs3909059	1.00[YRI][hapmap]
rs3909060	1.00[YRI][hapmap]
rs3936951	1.00[YRI][hapmap]
rs4814281	1.00[YRI][hapmap]
rs4814286	1.00[YRI][hapmap]
rs6033863	1.00[YRI][hapmap]
rs6033874	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6033900	1.00[AMR][1000 genomes]
rs6042440	1.00[AMR][1000 genomes]
rs6042465	1.00[AMR][1000 genomes]
rs6042467	1.00[YRI][hapmap]
rs6042481	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042540	1.00[AMR][1000 genomes]
rs6042546	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6042587	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6074691	1.00[YRI][hapmap]
rs6079320	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6079343	1.00[AMR][1000 genomes]
rs6079347	1.00[AMR][1000 genomes]
rs6079348	1.00[AMR][1000 genomes]
rs6105218	1.00[YRI][hapmap]
rs927564	1.00[YRI][hapmap];1.00[AMR][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	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv526954	chr20:13995214-14055947	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14046400-14050200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14046400-14050200	Weak transcription	HMEC	breast
3	chr20:14048800-14050000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:14048800-14050000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:14048800-14050200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr20:14048800-14050200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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