Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185518755..185520867-chr1:185527549..185529971,2	K562	blood:

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

rs_ID	r²[population]
rs10911754	0.81[EUR][1000 genomes]
rs10911755	0.81[EUR][1000 genomes]
rs11576129	0.80[ASN][1000 genomes]
rs11576884	0.82[ASN][1000 genomes]
rs11581960	0.82[ASN][1000 genomes]
rs11583193	0.82[ASN][1000 genomes]
rs11586605	0.82[ASN][1000 genomes]
rs12029108	0.82[ASN][1000 genomes]
rs12046138	0.82[ASN][1000 genomes]
rs12048982	0.82[ASN][1000 genomes]
rs12402146	0.82[ASN][1000 genomes]
rs12402607	0.82[ASN][1000 genomes]
rs1321998	0.81[EUR][1000 genomes]
rs1321999	0.81[EUR][1000 genomes]
rs2295792	0.82[ASN][1000 genomes]
rs28776539	0.82[ASN][1000 genomes]
rs35495151	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56822355	0.82[ASN][1000 genomes]
rs57836721	0.81[EUR][1000 genomes]
rs58848006	0.81[EUR][1000 genomes]
rs72726098	0.81[EUR][1000 genomes]
rs72727712	0.82[ASN][1000 genomes]
rs72727717	0.82[ASN][1000 genomes]
rs72727728	0.82[ASN][1000 genomes]
rs7518777	0.82[ASN][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv947556	chr1:185515946-185523530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185512400-185520200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:185514200-185519600	Weak transcription	Fetal Brain Female	brain
3	chr1:185515400-185520200	Weak transcription	Gastric	stomach
4	chr1:185518400-185519800	Weak transcription	Placenta	Placenta

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