Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163801051..163802963-chr6:163805360..163807590,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12175129	1.00[ASN][1000 genomes]
rs1230320	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1234977	0.80[EUR][1000 genomes]
rs1572434	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1614869	0.80[EUR][1000 genomes]
rs1737317	0.86[ASN][1000 genomes]
rs1744929	0.80[EUR][1000 genomes]
rs1764023	0.95[AFR][1000 genomes]
rs2259476	0.85[EUR][1000 genomes]
rs2259477	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2475390	0.87[EUR][1000 genomes]
rs2757575	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2757576	0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2757584	0.86[EUR][1000 genomes]
rs2757585	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2759386	0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2759396	0.83[EUR][1000 genomes]
rs66610474	1.00[ASN][1000 genomes]
rs6939187	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs783137	0.87[EUR][1000 genomes]
rs783139	0.87[EUR][1000 genomes]
rs803612	0.87[EUR][1000 genomes]
rs9347746	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347765	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9347747	QKI	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163791000-163813000	Weak transcription	Right Atrium	heart
2	chr6:163800800-163803600	Weak transcription	Spleen	Spleen
3	chr6:163802400-163803000	Enhancers	Brain Hippocampus Middle	brain
4	chr6:163802400-163803000	Enhancers	Brain Substantia Nigra	brain
5	chr6:163802400-163803200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:163802600-163803200	Enhancers	Fetal Heart	heart
7	chr6:163802600-163803400	Enhancers	HepG2	liver
8	chr6:163802600-163803800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:163802600-163807600	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:163802600-163812800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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