Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221843324..221846291-chr1:221860724..221862390,2	K562	blood:
2	chr1:221842453..221844829-chr1:221845406..221848131,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11577594	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586610	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590288	1.00[ASN][1000 genomes]
rs11590494	1.00[ASN][1000 genomes]
rs11801223	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801236	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805958	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809144	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810677	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376169	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056288	1.00[ASN][1000 genomes]
rs61817872	1.00[ASN][1000 genomes]
rs61817918	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817919	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817923	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817925	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817942	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817949	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817950	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700214	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355047	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221841600-221844800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:221841600-221848400	Weak transcription	Stomach Mucosa	stomach
3	chr1:221842200-221846000	Enhancers	HMEC	breast
4	chr1:221842600-221845800	Enhancers	NHDF-Ad	bronchial
5	chr1:221842600-221846200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:221842600-221846800	Enhancers	HSMM	muscle
7	chr1:221843000-221845600	Enhancers	Osteobl	bone
8	chr1:221843000-221846000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:221843000-221846400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:221843000-221846800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:221843000-221847600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:221843600-221847800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:221844000-221844800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:221844000-221845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:221844600-221845000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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