Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:153095102..153097789-chr4:153099165..153101280,3	K562	blood:
2	chr4:153095102..153097156-chr4:153098765..153101280,3	K562	blood:

Variant related genes	Relation type
ENSG00000250706	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11721407	0.82[AMR][1000 genomes]
rs11726930	0.85[AMR][1000 genomes]
rs11727188	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11727862	0.85[AMR][1000 genomes]
rs11732677	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733971	0.84[EUR][1000 genomes]
rs11736628	0.83[AMR][1000 genomes]
rs11737156	0.83[AMR][1000 genomes]
rs13131134	0.83[AMR][1000 genomes]
rs2406622	0.85[AMR][1000 genomes]
rs34069606	0.85[AMR][1000 genomes]
rs34276148	0.83[AMR][1000 genomes]
rs34909306	0.81[AMR][1000 genomes]
rs35296212	0.85[AMR][1000 genomes]
rs56780740	0.86[EUR][1000 genomes]
rs6858062	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72736219	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7662581	0.83[AMR][1000 genomes]
rs7674458	0.82[AMR][1000 genomes]
rs7675481	0.82[AMR][1000 genomes]
rs7682931	0.82[AMR][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	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv880774	chr4:153035743-153121818	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17361391	RP11-18H21.1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153094800-153095600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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