Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46234295..46236778-chr11:46252794..46255230,2	K562	blood:
2	chr11:46252501..46256449-chr11:46405288..46409508,5	K562	blood:

Variant related genes	Relation type
ENSG00000180720	Chromatin interaction

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

rs_ID	r²[population]
rs10501317	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11605191	0.86[ASN][1000 genomes]
rs28755875	0.86[ASN][1000 genomes]
rs35671387	0.86[ASN][1000 genomes]
rs58301639	0.86[ASN][1000 genomes]
rs58678374	0.86[ASN][1000 genomes]
rs7104451	0.86[ASN][1000 genomes]
rs7113170	0.90[ASN][1000 genomes]
rs7116965	0.86[ASN][1000 genomes]
rs72908033	0.87[EUR][1000 genomes]
rs72908034	0.87[EUR][1000 genomes]
rs72908050	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72908052	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72908065	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72908086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72908089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908092	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908096	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908098	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910006	0.90[ASN][1000 genomes]
rs7926726	0.86[ASN][1000 genomes]
rs7931075	0.86[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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46250600-46253400	Weak transcription	K562	blood
2	chr11:46251000-46258400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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