Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12085580..12088187-chr2:12090177..12093048,3	K562	blood:

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

rs_ID	r²[population]
rs10520110	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11901062	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12614423	0.82[EUR][1000 genomes]
rs55643286	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55821055	0.89[ASN][1000 genomes]
rs57404562	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58122677	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59826552	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59883742	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61152861	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62115005	0.82[EUR][1000 genomes]
rs62115038	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62115039	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62115042	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62115045	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62115051	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62115052	0.92[ASN][1000 genomes]
rs62115054	0.82[ASN][1000 genomes]
rs6733012	0.82[ASN][1000 genomes]
rs73915877	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7590488	0.81[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 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	chr2:12090800-12094400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:12090800-12095200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:12090800-12095200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:12091200-12094800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:12091600-12095400	Weak transcription	HMEC	breast

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