Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39309116..39310743-chr7:39323473..39325470,2	K562	blood:

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

rs_ID	r²[population]
rs12673488	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12701705	0.85[CEU][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12701714	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12701716	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs12701721	0.82[CHB][hapmap]
rs12701725	0.81[CHB][hapmap]
rs12701726	0.82[CHB][hapmap]
rs13222559	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs13233706	0.95[ASN][1000 genomes]
rs34629959	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4130697	0.82[CHB][hapmap]
rs4236358	0.82[CHB][hapmap]
rs4314553	0.85[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4316059	0.88[CEU][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4498449	0.84[CHD][hapmap]
rs4504545	0.82[CHB][hapmap]
rs4509216	0.80[CHB][hapmap]
rs4530944	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs4551233	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap]
rs4582444	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs4723850	0.82[CHB][hapmap]
rs62453447	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62453457	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6949878	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9648478	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv1015572	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv538821	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv887969	chr7:39265429-39391875	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10807900	STARD3NL	cis	cerebellum	SCAN
rs10807900	ANLN	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39324000-39326600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:39324400-39325600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:39324800-39325200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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