Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213088698..213090352-chr1:213094141..213096256,2	K562	blood:
2	chr1:213094798..213097426-chr1:213100540..213102922,3	K562	blood:

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

rs_ID	r²[population]
rs10902	0.82[CEU][hapmap]
rs11120067	0.87[ASN][1000 genomes]
rs12048942	0.80[CEU][hapmap]
rs12404754	0.89[CHD][hapmap]
rs12567713	0.82[CEU][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs12567728	0.82[CEU][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1284855	0.82[CHB][hapmap]
rs17019818	0.82[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs17019870	0.82[CEU][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1874420	0.82[CEU][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs1890932	0.82[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1890936	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1890937	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2291772	0.82[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs2497959	0.80[MEX][hapmap]
rs2644548	0.84[MEX][hapmap]
rs3207090	0.88[CHD][hapmap]
rs3768548	0.82[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs6656128	0.87[ASN][1000 genomes]
rs6656232	0.87[ASN][1000 genomes]
rs6680527	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72745808	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7523310	0.87[ASN][1000 genomes]
rs7523329	0.87[ASN][1000 genomes]
rs7533476	0.87[ASN][1000 genomes]
rs7533575	0.87[ASN][1000 genomes]
rs7544198	0.82[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs9308427	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6680409	C1orf97	cis	parietal	SCAN
rs6680409	LOC642946	cis	multi-tissue	Pritchard
rs6680409	LQK1	cis	parietal	SCAN
rs6680409	LQK1	cis	cerebellum	SCAN
rs6680409	FAM71A	cis	cerebellum	SCAN
rs6680409	FLVCR1	cis	Whole Blood	GTEx
rs6680409	FLVCR	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213090600-213101800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213090800-213101200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:213090800-213101200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:213090800-213101200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:213091800-213100400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:213092200-213098600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:213092200-213101400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:213092600-213098200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:213092800-213101200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:213093000-213098000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:213094800-213101400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:213095000-213098000	Weak transcription	HepG2	liver
13	chr1:213095000-213101400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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