Variant report

No.	Distal block	Cell Line	Cell type
1	chr22:32806869..32809842-chr22:32816444..32820069,3	MCF-7	breast:
2	chr22:32806674..32809843-chr22:32815154..32819369,3	K562	blood:
3	chr22:32807581..32809843-chr22:32816573..32819369,2	K562	blood:

Variant related genes	Relation type
ENSG00000100220	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11089558	1.00[EUR][1000 genomes]
rs11912086	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11912716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11914186	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12159901	1.00[EUR][1000 genomes]
rs28702904	1.00[EUR][1000 genomes]
rs58900751	1.00[EUR][1000 genomes]
rs59625475	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59857514	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994545	1.00[EUR][1000 genomes]
rs5994546	1.00[EUR][1000 genomes]
rs5994548	1.00[EUR][1000 genomes]
rs5998426	1.00[EUR][1000 genomes]
rs60043294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61138259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286662	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7287940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7289771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621429	1.00[EUR][1000 genomes]
rs9621433	1.00[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	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1055701	chr22:32806595-32845403	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32808200-32818000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:32808400-32818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32809000-32817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:32817000-32818200	Enhancers	Liver	Liver

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