Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:122841291..122844860-chr4:122847346..122850821,4	K562	blood:
2	chr4:122841291..122845931-chr4:122847267..122850880,5	K562	blood:
3	chr4:122843651..122845698-chr4:122859553..122861255,2	MCF-7	breast:

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

rs_ID	r²[population]
rs1507987	0.85[CHD][hapmap]
rs2706794	0.84[CHD][hapmap];1.00[EUR][1000 genomes]
rs2706797	0.81[CHD][hapmap]
rs3217760	1.00[ASW][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3217782	1.00[AMR][1000 genomes]
rs3749475	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3762839	0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3805159	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4077755	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41462746	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[AMR][1000 genomes]
rs4256243	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[AMR][1000 genomes]
rs57880593	1.00[AMR][1000 genomes]
rs58062096	1.00[AMR][1000 genomes]
rs59323263	1.00[AMR][1000 genomes]
rs59971648	1.00[AMR][1000 genomes]
rs60712265	1.00[AMR][1000 genomes]
rs61097039	1.00[AMR][1000 genomes]
rs61300303	1.00[AMR][1000 genomes]
rs72919937	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs769240	0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014729	chr4:122806228-122848966	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122813400-122860600	Weak transcription	Fetal Lung	lung
2	chr4:122821600-122857400	Weak transcription	Fetal Heart	heart
3	chr4:122831200-122853200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:122842800-122853200	Weak transcription	Fetal Stomach	stomach
5	chr4:122844200-122845000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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