Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:117887538-117889715	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000255686	TF binding region

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

rs_ID	r²[population]
rs10507280	0.89[CEU][hapmap];0.93[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10744897	0.90[JPT][hapmap]
rs10774926	0.93[CHB][hapmap]
rs10850827	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10850828	0.90[JPT][hapmap]
rs11068499	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11068500	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068501	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs11613545	0.92[CHB][hapmap]
rs12302697	0.90[CEU][hapmap];0.93[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12311157	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12312120	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12316771	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12813784	0.93[CHB][hapmap]
rs12813801	0.90[CHB][hapmap]
rs17618096	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34731287	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41279104	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4766851	0.82[JPT][hapmap]
rs7306852	0.90[JPT][hapmap]
rs900623	0.96[EUR][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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv899543	chr12:117882412-117925208	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:117888000-117888400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:117888000-117888600	Weak transcription	Pancreas	Pancrea
3	chr12:117888200-117889800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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