Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr1:185607060-185607479	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000201596	TF binding region

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1073470	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798022	0.92[ASN][1000 genomes]
rs10911762	0.86[ASN][1000 genomes]
rs10911764	0.86[ASN][1000 genomes]
rs10911766	0.86[ASN][1000 genomes]
rs10911767	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911768	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911771	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11484606	0.88[ASN][1000 genomes]
rs12075447	0.86[ASN][1000 genomes]
rs12078333	0.92[ASN][1000 genomes]
rs12081447	0.86[ASN][1000 genomes]
rs12081525	0.92[ASN][1000 genomes]
rs12083029	0.92[ASN][1000 genomes]
rs12091798	0.93[ASN][1000 genomes]
rs12402733	0.88[ASN][1000 genomes]
rs1830592	0.92[ASN][1000 genomes]
rs57929036	0.92[ASN][1000 genomes]
rs58210626	0.86[ASN][1000 genomes]
rs59587435	0.92[ASN][1000 genomes]
rs59739768	0.92[ASN][1000 genomes]
rs59772563	0.92[ASN][1000 genomes]
rs60007510	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61449902	0.81[ASN][1000 genomes]
rs73062748	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73062767	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3350575	chr1:185580344-185614213	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 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	chr1:185606600-185613200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:185606800-185613200	Weak transcription	NHEK	skin
3	chr1:185607200-185607600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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