Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108301955..108303880-chr11:108367660..108369916,2	K562	blood:

Variant related genes	Relation type
ENSG00000178202	Chromatin interaction

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

rs_ID	r²[population]
rs10890838	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890844	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10890845	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10890846	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11212650	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212653	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11212674	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11828864	0.84[EUR][1000 genomes]
rs12274479	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278954	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17108024	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4753840	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753843	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754317	0.84[EUR][1000 genomes]
rs55930851	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72992163	0.93[EUR][1000 genomes]
rs72992175	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992191	0.90[EUR][1000 genomes]
rs72993806	0.84[EUR][1000 genomes]
rs72997833	0.84[EUR][1000 genomes]
rs7396719	0.84[EUR][1000 genomes]
rs7938612	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7947933	0.84[EUR][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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr11:108302800-108303800	Enhancers	HSMM	muscle
2	chr11:108302800-108305000	Enhancers	HSMMtube	muscle

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