Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70286905..70288667-chr1:70301183..70303525,2	K562	blood:
2	chr1:70283782..70286242-chr1:70286706..70289551,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10889860	0.89[YRI][hapmap]
rs11209557	0.82[YRI][hapmap]
rs11209564	0.89[YRI][hapmap]
rs11209578	0.86[YRI][hapmap]
rs11209579	0.86[YRI][hapmap]
rs11583726	0.93[YRI][hapmap]
rs12024338	0.93[YRI][hapmap]
rs12025637	0.82[YRI][hapmap]
rs12031885	0.89[YRI][hapmap]
rs12039534	0.86[YRI][hapmap]
rs1913268	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap]
rs1913269	0.88[ASW][hapmap];0.84[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.93[YRI][hapmap]
rs1913270	0.86[YRI][hapmap]
rs1938584	0.82[ASW][hapmap];0.89[YRI][hapmap]
rs2421306	0.82[YRI][hapmap]
rs6424609	0.86[YRI][hapmap]
rs6424610	0.85[YRI][hapmap]
rs6662513	0.86[YRI][hapmap]
rs6665742	0.85[YRI][hapmap]
rs6686752	0.82[ASW][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap]
rs6695450	0.82[YRI][hapmap]
rs6699837	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6703428	0.89[YRI][hapmap]
rs7530457	0.86[YRI][hapmap]
rs7531255	0.93[YRI][hapmap]
rs7544286	0.82[ASW][hapmap];0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv461784	chr1:70231535-70306245	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv546452	chr1:70231535-70306245	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv1842679	chr1:70279860-70306245	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv521307	chr1:70282875-70288647	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1938580	PTGER3	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70287200-70290200	Weak transcription	Brain Germinal Matrix	brain
2	chr1:70288000-70293600	Weak transcription	Psoas Muscle	Psoas

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