Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75985522..75987220-chr1:75991522..75993115,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11163461	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs11163490	0.85[CHB][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs11163493	0.85[CHB][hapmap];0.85[CHD][hapmap];0.81[MKK][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs11163496	0.85[CHB][hapmap];0.86[YRI][hapmap]
rs11804097	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs11806471	0.84[CHB][hapmap]
rs11809429	0.85[CHB][hapmap]
rs12402118	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1249783	0.85[CHB][hapmap]
rs1249794	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs1332784	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1571983	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17096860	0.85[CHB][hapmap]
rs17096877	0.85[CHB][hapmap]
rs17303921	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1778459	0.84[JPT][hapmap]
rs182411	0.85[CHB][hapmap]
rs1891902	0.86[CHB][hapmap]
rs2083868	0.85[CHB][hapmap]
rs211683	0.85[CHB][hapmap]
rs211759	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs211762	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs2347217	0.82[CHB][hapmap]
rs3845363	0.85[CHB][hapmap]
rs396106	0.85[CHB][hapmap]
rs438611	0.85[CHB][hapmap]
rs6657734	0.85[CHB][hapmap]
rs6676696	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs211786	IFI44	cis	parietal	SCAN
rs211786	CYP26A1	trans	cerebellum	SCAN
rs211786	ACADM	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75987800-75993400	Weak transcription	Fetal Brain Female	brain
2	chr1:75988400-75998400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:75988600-75993200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:75989000-75993200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:75989000-75994400	Weak transcription	HUVEC	blood vessel
6	chr1:75990200-75994400	Weak transcription	Fetal Brain Male	brain

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