Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:184814661-184815998	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000238306	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10199461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205814	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs34942554	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34974614	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296393	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4303682	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4322806	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4350706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458173	1.00[CEU][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505484	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4560074	0.94[ASN][1000 genomes]
rs4666646	0.84[EUR][1000 genomes]
rs4666952	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6714564	0.80[EUR][1000 genomes]
rs6743413	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6755058	0.89[EUR][1000 genomes]
rs704864	0.82[EUR][1000 genomes]
rs7601296	0.83[ASN][1000 genomes]
rs826128	0.82[EUR][1000 genomes]
rs826129	0.84[EUR][1000 genomes]
rs826146	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002074	chr2:184697897-184955330	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875487	chr2:184737282-185186670	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2763332	chr2:184789460-184815561	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv583967	chr2:184797402-184814661	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv522576	chr2:184797402-184826437	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 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	chr2:184813200-184816000	Enhancers	Fetal Lung	lung
2	chr2:184814400-184814800	Weak transcription	Brain Germinal Matrix	brain
3	chr2:184814600-184816000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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