Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221054063..221056814-chr1:221077512..221081376,3	MCF-7	breast:
2	chr1:221079788..221081471-chr1:221412384..221413966,2	K562	blood:

Variant related genes	Relation type
ENSG00000136630	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10495155	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10495157	0.80[EUR][1000 genomes]
rs11578466	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11580070	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11588625	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1335915	0.80[EUR][1000 genomes]
rs1335916	0.80[EUR][1000 genomes]
rs1335928	0.80[EUR][1000 genomes]
rs1414508	0.80[EUR][1000 genomes]
rs1414517	0.80[EUR][1000 genomes]
rs2210837	0.80[EUR][1000 genomes]
rs2484709	0.80[EUR][1000 genomes]
rs2484710	0.80[EUR][1000 genomes]
rs2738751	0.88[EUR][1000 genomes]
rs2738756	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2784246	0.80[EUR][1000 genomes]
rs2784250	0.88[EUR][1000 genomes]
rs2784252	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2784254	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2784273	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2784283	0.80[EUR][1000 genomes]
rs2807862	0.96[EUR][1000 genomes]
rs2807866	1.00[CEU][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3125046	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41369048	0.82[EUR][1000 genomes]
rs950635	0.96[EUR][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221077400-221080800	Enhancers	Fetal Muscle Leg	muscle
2	chr1:221079200-221081200	Enhancers	Hela-S3	cervix
3	chr1:221079400-221080800	Enhancers	Liver	Liver
4	chr1:221079400-221081000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:221079400-221081200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:221079400-221081200	Enhancers	A549	lung
7	chr1:221079800-221080800	Enhancers	HMEC	breast
8	chr1:221079800-221081000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:221079800-221081000	Enhancers	NHDF-Ad	bronchial
10	chr1:221079800-221081000	Enhancers	Osteobl	bone
11	chr1:221080000-221080800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:221080000-221081000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:221080600-221090200	Weak transcription	Colon Smooth Muscle	Colon

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