Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:114532816..114535343-chr1:114801379..114803546,2	MCF-7	breast:
2	chr1:114534979..114536505-chr1:114575410..114577560,2	MCF-7	breast:
3	chr1:114524656..114527176-chr1:114534209..114536962,2	K562	blood:
4	chr1:114533629..114535555-chr1:114541960..114543621,2	MCF-7	breast:
5	chr1:114534999..114536807-chr1:114545965..114547764,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11102704	0.82[JPT][hapmap]
rs11102712	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1158910	0.87[ASN][1000 genomes]
rs1158911	0.87[ASN][1000 genomes]
rs1158912	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12029644	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12029840	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1354373	0.87[ASN][1000 genomes]
rs17032048	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1806763	0.96[ASN][1000 genomes]
rs2358997	0.83[ASN][1000 genomes]
rs2358998	0.84[ASN][1000 genomes]
rs2359000	0.81[ASN][1000 genomes]
rs2884604	0.84[ASN][1000 genomes]
rs2938319	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2938320	0.88[ASN][1000 genomes]
rs3006981	0.84[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3006988	0.87[ASN][1000 genomes]
rs3006989	0.87[ASN][1000 genomes]
rs3006996	0.96[ASN][1000 genomes]
rs3006998	0.89[ASN][1000 genomes]
rs3006999	0.89[ASN][1000 genomes]
rs3007002	0.90[ASN][1000 genomes]
rs924778	0.97[ASN][1000 genomes]
rs937672	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7520320	PTPN22	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114528000-114536600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:114528200-114535800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:114528200-114540800	Weak transcription	Fetal Lung	lung
4	chr1:114530000-114536200	Weak transcription	Fetal Stomach	stomach
5	chr1:114532200-114535800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:114535200-114536200	Weak transcription	Fetal Muscle Leg	muscle

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