Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50355645..50357503-chr10:50357925..50361172,3	K562	blood:
2	chr10:50358294..50360224-chr10:50361427..50364405,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11100986	1.00[ASN][1000 genomes]
rs12264188	0.91[EUR][1000 genomes]
rs17011899	1.00[ASN][1000 genomes]
rs2137919	1.00[CHB][hapmap]
rs41280539	1.00[ASN][1000 genomes]
rs4550152	0.88[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs4838362	1.00[CHB][hapmap]
rs4838368	1.00[CHB][hapmap]
rs4838369	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs4838448	0.89[EUR][1000 genomes]
rs4838450	0.91[EUR][1000 genomes]
rs4838457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838463	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57844252	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60022174	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848422	0.91[EUR][1000 genomes]
rs6537498	0.88[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs7080003	0.86[EUR][1000 genomes]
rs7085702	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7090938	0.86[EUR][1000 genomes]
rs7096721	0.86[EUR][1000 genomes]
rs72785093	1.00[ASN][1000 genomes]
rs7895377	0.91[EUR][1000 genomes]
rs7898774	0.84[EUR][1000 genomes]
rs7898865	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7899524	0.86[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4838462	C10orf72	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50354400-50362000	Weak transcription	K562	blood
2	chr10:50356400-50359200	Enhancers	Fetal Stomach	stomach
3	chr10:50356800-50358400	Enhancers	HSMMtube	muscle
4	chr10:50357000-50359600	Enhancers	Fetal Muscle Leg	muscle
5	chr10:50357200-50358600	Enhancers	HSMM	muscle
6	chr10:50357200-50359000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr10:50357200-50360000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:50357400-50358600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:50357800-50358400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:50357800-50359400	Enhancers	Fetal Muscle Trunk	muscle
11	chr10:50358000-50359000	Enhancers	Psoas Muscle	Psoas
12	chr10:50358000-50359400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:50358000-50359800	Weak transcription	Fetal Lung	lung
14	chr10:50358000-50359800	Enhancers	NHDF-Ad	bronchial

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