Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr2:234221621-234221838	A549	lung:	n/a	chr2:234221740-234221766 chr2:234221744-234221762 chr2:234221745-234221761 chr2:234221740-234221766 chr2:234221746-234221760 chr2:234221740-234221766 chr2:234221745-234221761 chr2:234221746-234221760 chr2:234221745-234221761 chr2:234221740-234221766 chr2:234221745-234221761 chr2:234221740-234221766
2	RUNX3	chr2:234221544-234221793	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SAG	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10168367	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10168794	1.00[CHB][hapmap]
rs10199833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892545	1.00[CHB][hapmap]
rs13384932	1.00[CHB][hapmap]
rs13400563	1.00[CHB][hapmap]
rs13427703	1.00[CHB][hapmap]
rs1972906	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2124045	1.00[CHB][hapmap]
rs2289473	1.00[CHB][hapmap]
rs2304773	0.84[CEU][hapmap];1.00[CHD][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28605452	0.84[EUR][1000 genomes]
rs2971865	1.00[CHB][hapmap]
rs3762586	0.84[EUR][1000 genomes]
rs3792104	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs61062196	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6431282	0.90[EUR][1000 genomes]
rs66706635	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6745134	1.00[CHB][hapmap]
rs73116218	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73119905	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7422734	1.00[CHB][hapmap]
rs7588509	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838557	1.00[CHB][hapmap]
rs838558	1.00[CHB][hapmap]
rs838561	1.00[CHB][hapmap]
rs838562	1.00[CHB][hapmap]

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	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:234219400-234222600	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:234219600-234222600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:234220200-234222200	Enhancers	GM12878-XiMat	blood
4	chr2:234220200-234222600	Enhancers	Primary B cells from cord blood	blood
5	chr2:234221400-234222000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr2:234221400-234222000	Bivalent/Poised TSS	HepG2	liver
7	chr2:234221400-234223400	Weak transcription	Pancreas	Pancrea
8	chr2:234221600-234222000	Enhancers	Spleen	Spleen

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