Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45345880..45347474-chr6:45368539..45370057,2	K562	blood:
2	chr6:45343784..45347380-chr6:45368539..45372167,4	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10948233	0.84[ASW][hapmap];0.90[LWK][hapmap];0.85[AFR][1000 genomes]
rs10948234	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11964690	0.91[LWK][hapmap]
rs11966878	0.91[LWK][hapmap]
rs12201563	0.85[AFR][1000 genomes]
rs12201899	0.91[LWK][hapmap]
rs12216308	0.86[AFR][1000 genomes]
rs1321078	0.85[AFR][1000 genomes]
rs1575060	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17209741	0.91[LWK][hapmap]
rs17209853	0.90[JPT][hapmap]
rs17209874	0.90[JPT][hapmap]
rs17209881	0.90[JPT][hapmap]
rs17209895	0.84[ASW][hapmap];0.90[LWK][hapmap];0.96[MKK][hapmap]
rs17288390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17288397	0.90[JPT][hapmap]
rs1852983	0.85[AFR][1000 genomes]
rs1977152	0.89[JPT][hapmap]
rs1997995	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2819855	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs3805818	0.90[JPT][hapmap]
rs3828722	0.90[JPT][hapmap]
rs72862937	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749637	0.97[EUR][1000 genomes]
rs7751427	0.90[JPT][hapmap]
rs7768466	0.90[JPT][hapmap]
rs7768666	0.90[JPT][hapmap]
rs7770471	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9296459	LOC100132354	cis	cerebellum	SCAN
rs9296459	SUPT3H	cis	cerebellum	SCAN
rs9296459	SUPT3H	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45356800-45382800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:45358400-45383000	Weak transcription	Osteobl	bone
3	chr6:45362200-45376200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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