Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10424917..10427474-chr12:10431900..10433911,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10845084	0.82[AMR][1000 genomes]
rs10845089	0.90[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10845090	0.90[CEU][hapmap]
rs10845091	0.89[CEU][hapmap]
rs10845103	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11053699	0.89[AMR][1000 genomes]
rs11053704	0.89[AMR][1000 genomes]
rs11053711	0.82[AMR][1000 genomes]
rs11053712	0.90[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11613226	0.95[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12370398	1.00[ASW][hapmap];0.90[CEU][hapmap];0.95[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12372618	0.90[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17808261	0.95[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17808267	1.00[CEU][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2270238	1.00[LWK][hapmap];0.87[MKK][hapmap];0.80[TSI][hapmap]
rs3898122	0.84[AMR][1000 genomes]
rs4237965	0.90[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4329754	0.84[AMR][1000 genomes]
rs56146423	0.89[AMR][1000 genomes]
rs56374289	0.82[AMR][1000 genomes]
rs61919792	0.89[AMR][1000 genomes]
rs61919793	0.81[AMR][1000 genomes]
rs7953558	0.90[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv557454	chr12:10417260-10440885	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17808345	GRIN2B	cis	cerebellum	SCAN
rs17808345	NOP2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10398800-10436200	Weak transcription	Placenta	Placenta
2	chr12:10429000-10442000	Weak transcription	Left Ventricle	heart
3	chr12:10431000-10435400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:10433000-10433600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:10433400-10435800	Weak transcription	Primary T cells fromperipheralblood	blood

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