Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100738176..100740012-chr3:100741389..100744208,2	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10936459	1.00[JPT][hapmap]
rs10936464	1.00[JPT][hapmap]
rs13062274	0.88[ASN][1000 genomes]
rs13072542	0.88[ASN][1000 genomes]
rs13079773	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13082728	0.88[ASN][1000 genomes]
rs13090397	0.88[ASN][1000 genomes]
rs1349199	0.82[CHB][hapmap]
rs1375510	0.85[CEU][hapmap]
rs1449300	0.88[ASN][1000 genomes]
rs1449302	0.88[ASN][1000 genomes]
rs1449305	1.00[JPT][hapmap]
rs1449320	0.88[ASN][1000 genomes]
rs16843113	1.00[JPT][hapmap]
rs16843116	1.00[JPT][hapmap]
rs16843148	0.88[ASN][1000 genomes]
rs1839302	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1965214	1.00[JPT][hapmap]
rs2576367	0.81[CEU][hapmap]
rs2576390	0.81[CEU][hapmap]
rs2595883	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2595899	0.85[CEU][hapmap]
rs2595904	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2713737	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2713757	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2873448	0.88[ASN][1000 genomes]
rs3732895	1.00[JPT][hapmap]
rs3732896	1.00[JPT][hapmap]
rs3806655	1.00[JPT][hapmap]
rs4420911	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4928102	1.00[JPT][hapmap]
rs4928104	1.00[JPT][hapmap]
rs7631509	0.88[ASN][1000 genomes]

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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2713770	TFG	cis	cerebellum	SCAN
rs2713770	IFI44	trans	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100730000-100745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:100736200-100744800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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