Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:22515695-22520041	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:22515612-22519946	HepG2	liver:	n/a	n/a
3	E2F6	chr4:22519497-22519944	H1-hESC	embryonic stem cell:	n/a	n/a
4	EBF1	chr4:22519658-22520055	GM12878	blood:	n/a	chr4:22519824-22519835

Variant related genes	Relation type
GPR125	TF binding region

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

rs_ID	r²[population]
rs12504167	0.87[ASN][1000 genomes]
rs13113896	0.85[ASN][1000 genomes]
rs13115916	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13133913	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13135791	0.84[ASN][1000 genomes]
rs1381915	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462987	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872759	0.81[ASN][1000 genomes]
rs1841822	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495025	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4631026	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4697018	0.90[ASN][1000 genomes]
rs4697312	0.85[ASN][1000 genomes]
rs6818676	0.95[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114193	0.84[ASN][1000 genomes]
rs73114194	0.84[ASN][1000 genomes]
rs7670164	0.90[ASN][1000 genomes]
rs7692390	0.90[ASN][1000 genomes]
rs7697048	0.90[ASN][1000 genomes]
rs9992412	0.82[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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22518600-22519800	Enhancers	Fetal Heart	heart
2	chr4:22518600-22523600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:22518800-22519800	Weak transcription	Psoas Muscle	Psoas
4	chr4:22518800-22520000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr4:22518800-22523000	Weak transcription	HepG2	liver
6	chr4:22518800-22532600	Weak transcription	Fetal Lung	lung
7	chr4:22519000-22520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:22519200-22521400	Weak transcription	Rectal Mucosa Donor 31	rectum

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