Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159068678..159071672-chr1:159072743..159076622,3	K562	blood:
2	chr1:159068678..159071672-chr1:159072743..159078068,4	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1057028	0.80[GIH][hapmap]
rs1101998	0.80[GIH][hapmap]
rs12124059	0.85[GIH][hapmap];0.85[TSI][hapmap]
rs1633256	0.80[GIH][hapmap];0.83[TSI][hapmap]
rs1772408	0.86[GIH][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap]
rs1772414	0.80[GIH][hapmap];0.83[TSI][hapmap]
rs1772415	0.83[TSI][hapmap]
rs2078723	1.00[ASN][1000 genomes]
rs2518562	0.86[GIH][hapmap]
rs2518563	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2518564	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2518565	1.00[ASN][1000 genomes]
rs2570916	0.81[CHD][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs2814757	0.96[ASN][1000 genomes]
rs2814759	1.00[ASN][1000 genomes]
rs2814760	1.00[ASN][1000 genomes]
rs2814764	0.90[ASN][1000 genomes]
rs2852723	1.00[ASN][1000 genomes]
rs855865	0.89[GIH][hapmap];0.85[TSI][hapmap]
rs855866	0.88[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs855867	0.86[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs855871	0.84[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.81[ASN][1000 genomes]
rs856046	0.92[AFR][1000 genomes]
rs861318	0.80[GIH][hapmap]

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	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1894043	TMEM79	cis	parietal	SCAN
rs1894043	IFI16	cis	cerebellum	SCAN
rs1894043	AIM2	cis	lymphoblastoid	seeQTL
rs1894043	PHGDH	trans	lymphoblastoid	seeQTL
rs1894043	AIM2	Cis_1M	lymphoblastoid	RTeQTL
rs1894043	IFI16	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159066800-159071800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:159067400-159071800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:159067400-159072200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:159067400-159073400	Weak transcription	Monocytes-CD14+_RO01746	blood

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