Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22516473..22518364-chr4:22531777..22533372,2	MCF-7	breast:
2	chr4:22516653..22518508-chr4:22531260..22534101,2	K562	blood:

Variant related genes	Relation type
ENSG00000152990	Chromatin interaction

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

rs_ID	r²[population]
rs10000592	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1072749	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12163757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503531	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2010711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010720	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55679609	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56134375	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56288407	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57520256	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61793446	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61793582	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61793583	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61793584	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61795769	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61795774	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61795775	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs68087263	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6811994	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6827718	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73119638	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7667546	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7680019	0.89[AMR][1000 genomes];0.93[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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr4:22518800-22532600	Weak transcription	Fetal Lung	lung
2	chr4:22527200-22534000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:22527400-22532600	Weak transcription	Fetal Stomach	stomach
4	chr4:22532200-22532600	Enhancers	Fetal Muscle Trunk	muscle
5	chr4:22532200-22534200	Enhancers	Fetal Muscle Leg	muscle

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