Variant report

Variant	rs56406114
Chromosome Location	chr3:180232357-180232358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:180231398..180234101-chr3:180263893..180266874,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11713314	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13327745	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1497891	0.94[EUR][1000 genomes]
rs2133007	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2338578	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28371986	0.80[AMR][1000 genomes]
rs28722789	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4490359	0.83[EUR][1000 genomes]
rs4615077	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs57668336	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6443701	0.83[AMR][1000 genomes]
rs6791597	0.95[AMR][1000 genomes]
rs7611683	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7613520	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7624210	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7633153	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7633440	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7633630	0.89[EUR][1000 genomes]
rs7636793	0.88[AMR][1000 genomes]
rs7637098	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7645817	0.86[AMR][1000 genomes]
rs7647003	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7647210	0.92[AMR][1000 genomes]
rs7650672	0.83[AMR][1000 genomes]
rs904241	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9832393	0.82[AMR][1000 genomes]
rs9840876	0.89[EUR][1000 genomes]
rs9851773	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9857056	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9865427	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9866700	0.89[EUR][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	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1007831	chr3:180162003-180348203	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536818	chr3:180162003-180348203	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180221000-180235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:180229200-180234600	Weak transcription	Pancreas	Pancrea

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