Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69569716..69571451-chr16:69579945..69582043,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11075726	0.99[ASN][1000 genomes]
rs11075729	0.93[ASN][1000 genomes]
rs11640319	0.86[ASN][1000 genomes]
rs11641686	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641722	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648335	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2161630	0.94[ASN][1000 genomes]
rs3848278	0.87[ASN][1000 genomes]
rs4633710	0.86[ASN][1000 genomes]
rs57497992	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499231	0.99[ASN][1000 genomes]
rs6499241	0.80[ASN][1000 genomes]
rs7187634	0.84[ASN][1000 genomes]
rs7191292	0.83[ASN][1000 genomes]
rs7192543	0.91[ASN][1000 genomes]
rs7204433	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205551	0.94[ASN][1000 genomes]
rs8049728	0.85[ASN][1000 genomes]
rs8055756	0.86[ASN][1000 genomes]
rs8061052	0.84[ASN][1000 genomes]
rs9302604	0.99[ASN][1000 genomes]
rs9783756	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938213	0.87[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	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8061725	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69574600-69597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:69580200-69581800	Weak transcription	A549	lung

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