Variant report

Variant	rs73963914
Chromosome Location	chr2:145488755-145488756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145276014..145278117-chr2:145488356..145490535,2	K562	blood:

Variant related genes	Relation type
ENSG00000238057	Chromatin interaction
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs55647125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55665103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55701936	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55836609	1.00[AMR][1000 genomes]
rs55924315	1.00[AMR][1000 genomes]
rs55992490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56049026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56412031	1.00[AMR][1000 genomes]
rs56769655	1.00[AMR][1000 genomes]
rs56790676	1.00[AMR][1000 genomes]
rs56824932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57273989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59039216	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59274820	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59373132	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60176990	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60328211	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61697170	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71428044	0.96[AFR][1000 genomes]
rs73962055	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962059	1.00[AMR][1000 genomes]
rs73962062	1.00[AMR][1000 genomes]
rs73962063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962064	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962065	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962068	1.00[AMR][1000 genomes]
rs73962070	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962071	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962074	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962078	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962079	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962081	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962086	1.00[AMR][1000 genomes]
rs73962088	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963910	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963916	1.00[AMR][1000 genomes]
rs73963917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963920	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963922	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963930	1.00[AMR][1000 genomes]
rs73963931	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963934	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963936	0.93[AFR][1000 genomes]
rs73963938	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963943	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963955	1.00[AMR][1000 genomes]
rs73963956	1.00[AMR][1000 genomes]
rs73963957	1.00[AMR][1000 genomes]
rs73963960	0.81[AFR][1000 genomes];1.00[AMR][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145463200-145495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145488200-145488800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:145488400-145488800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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