Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:145353179..145355811-chr6:145521442..145523143,2	K562	blood:

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

rs_ID	r²[population]
rs1012099	0.95[ASN][1000 genomes]
rs1012100	0.94[ASN][1000 genomes]
rs11155391	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1933927	0.95[ASN][1000 genomes]
rs1933928	0.94[ASN][1000 genomes]
rs2019545	0.95[ASN][1000 genomes]
rs2068343	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2153140	0.95[ASN][1000 genomes]
rs2876601	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3966674	0.95[ASN][1000 genomes]
rs4895665	0.95[ASN][1000 genomes]
rs4896769	0.94[ASN][1000 genomes]
rs4896771	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs522959	0.84[AMR][1000 genomes]
rs6570669	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6924480	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7450643	0.94[ASN][1000 genomes]
rs7741672	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7754511	1.00[ASN][1000 genomes]
rs9373443	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9376890	0.95[ASN][1000 genomes]
rs9376891	0.95[ASN][1000 genomes]
rs9376892	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9497171	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9497177	0.85[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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv886742	chr6:145269757-145376903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6929370	PLAGL1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145352400-145355800	Weak transcription	NHDF-Ad	bronchial
2	chr6:145352600-145355800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:145352800-145354000	Weak transcription	Osteobl	bone
4	chr6:145352800-145355800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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