Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:65495353-65496475	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
3	POLR2A	chr8:65495145-65496173	H1-neurons	neurons:	n/a	n/a
4	EP300	chr8:65496044-65496094	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:65493013..65495218-chr8:65495662..65497370,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254102	TF binding region
ENSG00000254102	Chromatin interaction

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

rs_ID	r²[population]
rs13276608	0.85[MEX][hapmap];0.83[AMR][1000 genomes]
rs34522585	0.92[AMR][1000 genomes]
rs3824188	1.00[YRI][hapmap]
rs4397440	1.00[YRI][hapmap]
rs4527914	1.00[YRI][hapmap]
rs62519822	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519827	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519832	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519833	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519835	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62519840	0.81[AMR][1000 genomes]
rs62519841	0.92[AMR][1000 genomes]
rs62519842	0.92[AMR][1000 genomes]
rs62519843	0.81[AMR][1000 genomes]
rs62519845	0.92[AMR][1000 genomes]
rs62519847	0.92[AMR][1000 genomes]
rs62521079	0.81[AMR][1000 genomes]
rs62521080	0.92[AMR][1000 genomes]
rs62521095	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9650210	GOLGA2P2Y	trans	lymphoblastoid	seeQTL
rs9650210	CHD7	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65494200-65496600	Bivalent/Poised TSS	Fetal Brain Male	brain
2	chr8:65494600-65496200	Active TSS	GM12878-XiMat	blood
3	chr8:65494800-65498200	Weak transcription	Pancreas	Pancrea
4	chr8:65495000-65496200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr8:65496000-65497200	Active TSS	Fetal Brain Female	brain

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