Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:27449659..27451510-chr6:27459264..27461160,2	K562	blood:
2	chr6:27457933..27459954-chr6:27461795..27463382,2	K562	blood:
3	chr6:27459556..27462133-chr6:27512934..27514958,2	K562	blood:

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

rs_ID	r²[population]
rs10484399	0.87[EUR][1000 genomes]
rs13191227	0.80[EUR][1000 genomes]
rs13191474	0.87[EUR][1000 genomes]
rs13195040	0.87[EUR][1000 genomes]
rs13195636	0.89[EUR][1000 genomes]
rs13196692	0.80[EUR][1000 genomes]
rs13202775	0.82[EUR][1000 genomes]
rs13207689	0.82[EUR][1000 genomes]
rs13209332	0.89[EUR][1000 genomes]
rs13218537	0.80[EUR][1000 genomes]
rs34105070	0.82[EUR][1000 genomes]
rs34196306	0.87[EUR][1000 genomes]
rs34332556	0.80[EUR][1000 genomes]
rs34573979	0.93[EUR][1000 genomes]
rs34613987	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34953377	0.80[EUR][1000 genomes]
rs34965299	0.89[EUR][1000 genomes]
rs35120058	0.80[EUR][1000 genomes]
rs35848276	0.89[EUR][1000 genomes]
rs41269265	0.87[EUR][1000 genomes]
rs58616630	0.93[EUR][1000 genomes]
rs66785117	0.89[EUR][1000 genomes]
rs66841633	0.80[EUR][1000 genomes]
rs67240003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67859638	0.82[EUR][1000 genomes]
rs6904596	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6918792	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7749305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34864796	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs34864796	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs34864796	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27459600-27461800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:27459800-27461000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:27459800-27462600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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