Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr4:76810685-76810993	T-47D	breast:	n/a	n/a
2	GATA2	chr4:76810703-76810973	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr4:76810628-76811001	MCF-7	breast:	n/a	n/a
4	GATA3	chr4:76810502-76811024	MCF-7	breast:	n/a	n/a
5	ZNF217	chr4:76810668-76810983	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
PPEF2	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10009966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10518141	1.00[EUR][1000 genomes]
rs11930088	1.00[EUR][1000 genomes]
rs12498639	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13123426	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1566975	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1976517	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1976518	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2089252	1.00[EUR][1000 genomes]
rs4241574	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4241575	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4484327	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55831742	1.00[ASN][1000 genomes]
rs56056355	1.00[ASN][1000 genomes]
rs60011229	1.00[EUR][1000 genomes]
rs6532010	1.00[EUR][1000 genomes]
rs73825577	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666135	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7691712	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9994323	1.00[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76810200-76811400	Enhancers	Placenta	Placenta
2	chr4:76810400-76811200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:76810400-76811200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:76810600-76811000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:76810600-76811000	Active TSS	Brain Cingulate Gyrus	brain
6	chr4:76810800-76811000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:76810800-76811200	Enhancers	Brain Anterior Caudate	brain

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