Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120011323..120013306-chr11:120017125..120019981,3	MCF-7	breast:
2	chr11:120007796..120009759-chr11:120018976..120020535,2	K562	blood:

Variant related genes	Relation type
ENSG00000137699	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12291190	0.83[ASN][1000 genomes]
rs2508491	0.89[ASN][1000 genomes]
rs2508492	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2511023	0.96[ASN][1000 genomes]
rs471776	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs477337	0.85[ASN][1000 genomes]
rs481599	1.00[CEU][hapmap]
rs488615	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs490819	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs504236	0.86[ASN][1000 genomes]
rs504976	0.86[ASN][1000 genomes]
rs507419	1.00[CEU][hapmap]
rs508266	1.00[CEU][hapmap]
rs513638	1.00[CEU][hapmap]
rs518863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs546441	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs547897	0.89[ASN][1000 genomes]
rs551843	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs561218	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs562015	0.80[ASN][1000 genomes]
rs571854	0.89[ASN][1000 genomes]
rs574563	0.89[ASN][1000 genomes]
rs579368	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120007200-120021400	Weak transcription	Right Atrium	heart
2	chr11:120017600-120019800	Enhancers	HMEC	breast
3	chr11:120017800-120020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:120019000-120023600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:120019200-120020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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