Variant report

No.	Distal block	Cell Line	Cell type
1	chr9:95548519..95551423-chr9:95551697..95555504,3	K562	blood:
2	chr9:95548536..95551423-chr9:95551697..95554622,2	K562	blood:
3	chr9:95262989..95265065-chr9:95551736..95554056,2	MCF-7	breast:
4	chr9:95488503..95490523-chr9:95550611..95553154,2	MCF-7	breast:
5	chr9:95525165..95529310-chr9:95549740..95553522,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185963	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10120856	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10120915	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122383	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125587	0.83[CEU][hapmap]
rs1022844	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491804	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];1.00[ASN][1000 genomes]
rs10820999	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10821008	0.81[CEU][hapmap]
rs10992393	0.86[CEU][hapmap]
rs10992424	1.00[ASN][1000 genomes]
rs10992450	1.00[ASN][1000 genomes]
rs13284038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2296669	0.81[CEU][hapmap]
rs2296671	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs41273372	1.00[ASN][1000 genomes]
rs4743875	0.86[CEU][hapmap]
rs4743876	1.00[ASN][1000 genomes]
rs4744141	0.81[CEU][hapmap]
rs6479431	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7020104	0.86[CEU][hapmap]
rs7043984	0.81[CEU][hapmap]
rs7046335	1.00[ASN][1000 genomes]
rs724102	0.81[CEU][hapmap]
rs755209	1.00[ASN][1000 genomes]
rs7852698	0.86[CEU][hapmap];0.83[YRI][hapmap]
rs7869521	0.86[CEU][hapmap];0.85[YRI][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	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv982595	chr9:95551536-95561640	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2181585	NOL8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95541400-95558600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:95546000-95553000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:95546000-95553000	Weak transcription	NHEK	skin
4	chr9:95551800-95552000	Enhancers	HepG2	liver

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