Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:98124009..98126508-chr9:98131048..98132775,2	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1027710	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10739992	0.81[CEU][hapmap]
rs10761382	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs10761387	0.85[EUR][1000 genomes]
rs10821455	0.85[CEU][hapmap]
rs10821458	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10821459	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10821461	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10821462	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993518	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1979022	0.81[CEU][hapmap]
rs2031599	0.85[CEU][hapmap]
rs2297596	0.81[CEU][hapmap]
rs2297597	0.85[CEU][hapmap]
rs35081772	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3737142	0.84[CEU][hapmap]
rs3844341	0.85[CEU][hapmap]
rs3852402	0.85[CEU][hapmap]
rs4647382	0.85[CEU][hapmap]
rs4647459	0.81[CEU][hapmap]
rs4647462	0.85[CEU][hapmap]
rs4647475	0.85[CEU][hapmap]
rs4743993	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4744446	0.85[CEU][hapmap]
rs4744451	0.81[CEU][hapmap]
rs4744455	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4744459	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026047	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7027204	0.85[CEU][hapmap]
rs7850958	0.81[CEU][hapmap]
rs7854570	0.85[CEU][hapmap]
rs7858493	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs963774	0.85[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	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1045479	chr9:98115290-98172995	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2036516	HABP4	cis	cerebellum	SCAN
rs2036516	PHF2	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98126000-98131800	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:98126000-98132000	Weak transcription	HSMMtube	muscle
3	chr9:98128000-98139200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:98131000-98131400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:98131000-98131600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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