Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:191284376-191285443	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191282988..191286150-chr3:191301534..191304296,3	K562	blood:

Variant related genes	Relation type
ENSG00000223812	TF binding region

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11920068	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11923881	0.85[EUR][1000 genomes]
rs13058999	0.85[EUR][1000 genomes]
rs13059719	0.85[EUR][1000 genomes]
rs13069964	0.85[EUR][1000 genomes]
rs13073988	0.85[EUR][1000 genomes]
rs13075503	0.85[EUR][1000 genomes]
rs13077141	1.00[EUR][1000 genomes]
rs13079255	0.85[EUR][1000 genomes]
rs13082388	0.81[EUR][1000 genomes]
rs13084345	0.85[EUR][1000 genomes]
rs13086688	0.81[EUR][1000 genomes]
rs13099851	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13100354	0.81[EUR][1000 genomes]
rs2037575	0.85[EUR][1000 genomes]
rs2037577	0.85[EUR][1000 genomes]
rs34124183	0.85[EUR][1000 genomes]
rs34395375	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34602464	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34930607	0.81[EUR][1000 genomes]
rs35202703	0.85[EUR][1000 genomes]
rs35312731	0.90[EUR][1000 genomes]
rs35467388	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35884225	0.81[EUR][1000 genomes]
rs35960806	0.85[EUR][1000 genomes]
rs36047366	0.85[EUR][1000 genomes]
rs36118580	0.85[EUR][1000 genomes]
rs36151691	0.85[EUR][1000 genomes]
rs58522159	0.90[EUR][1000 genomes]
rs6785213	0.85[EUR][1000 genomes]
rs6786776	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs71312423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71312425	0.95[EUR][1000 genomes]
rs71312430	0.85[EUR][1000 genomes]
rs71312431	0.85[EUR][1000 genomes]
rs71312443	0.81[EUR][1000 genomes]
rs71312444	0.81[EUR][1000 genomes]
rs71635005	0.81[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	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1008969	chr3:191192569-191383856	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv915689	chr3:191244719-191479974	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv997817	chr3:191284834-191475809	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191272400-191301400	Weak transcription	K562	blood
2	chr3:191283200-191285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:191285200-191287600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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