Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133595806..133598075-chr3:133598374..133600907,3	K562	blood:
2	chr3:133592957..133596449-chr3:133596615..133599487,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1104916	0.81[AMR][1000 genomes]
rs12492380	0.86[JPT][hapmap]
rs1358020	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1525886	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1880667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917779	0.81[LWK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs1917780	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1949881	0.92[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2692677	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs2692680	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692682	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs2692685	0.81[AMR][1000 genomes]
rs2715619	0.82[AFR][1000 genomes]
rs2715620	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs2715630	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs2715633	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2887814	0.81[AMR][1000 genomes]
rs940898	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs940900	0.81[AMR][1000 genomes]
rs9811568	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9813363	0.86[JPT][hapmap]
rs9815710	0.86[JPT][hapmap]
rs9844944	0.85[JPT][hapmap]
rs9861470	0.86[JPT][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	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1917781	EPHB1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133590600-133606600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:133592000-133602000	Weak transcription	Brain Angular Gyrus	brain
3	chr3:133592400-133602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:133592400-133605800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:133596200-133600000	Weak transcription	K562	blood
6	chr3:133596400-133613600	Weak transcription	Gastric	stomach
7	chr3:133598200-133598600	ZNF genes & repeats	Fetal Brain Male	brain
8	chr3:133598200-133599200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr3:133598200-133599800	Enhancers	Brain Anterior Caudate	brain
10	chr3:133598200-133599800	Enhancers	Brain Substantia Nigra	brain
11	chr3:133598200-133601400	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr3:133598400-133599000	Enhancers	Brain Cingulate Gyrus	brain
13	chr3:133598400-133599400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:133598400-133600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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