Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184996571..184998477-chr1:185000710..185002993,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1008502	0.80[EUR][1000 genomes]
rs10797997	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911686	0.91[AMR][1000 genomes]
rs12023744	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12040650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043617	0.84[EUR][1000 genomes]
rs12044161	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12049293	0.80[EUR][1000 genomes]
rs12064938	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12094983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401293	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12408279	0.84[EUR][1000 genomes]
rs12408500	0.86[AMR][1000 genomes]
rs12409926	0.84[EUR][1000 genomes]
rs16823740	0.92[EUR][1000 genomes]
rs3766720	0.84[EUR][1000 genomes]
rs3766723	0.80[EUR][1000 genomes]
rs3806243	0.86[AMR][1000 genomes]
rs72724103	0.91[AMR][1000 genomes]
rs72724108	0.82[AMR][1000 genomes]
rs72739677	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72739679	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72741816	0.86[AMR][1000 genomes]
rs72741817	0.87[AMR][1000 genomes]
rs72741819	0.91[AMR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS 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 target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522073	chr1:184986725-185013349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184996000-184997000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr1:184996400-184997000	ZNF genes & repeats	Aorta	Aorta
3	chr1:184996600-184997000	Weak transcription	Brain Angular Gyrus	brain

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