Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85699524..85701139-chr1:85723036..85725582,2	K562	blood:
2	chr1:85700522..85702496-chr1:85707627..85710446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162642	Chromatin interaction

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

rs_ID	r²[population]
rs10747317	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782542	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873693	0.82[EUR][1000 genomes]
rs11161573	0.89[CHB][hapmap];0.81[GIH][hapmap]
rs11161585	0.80[CHB][hapmap]
rs11161586	0.88[CHB][hapmap]
rs11161588	0.90[CHB][hapmap]
rs11161592	0.90[CHB][hapmap]
rs11576939	0.88[CHB][hapmap]
rs11583827	0.90[CHB][hapmap]
rs11587512	0.90[CHB][hapmap]
rs12093484	0.90[CHB][hapmap]
rs12405767	0.90[CHB][hapmap]
rs1498378	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498379	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498380	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17125445	0.90[CHB][hapmap]
rs4949927	0.90[CHB][hapmap]
rs4949928	0.90[CHB][hapmap]
rs6668948	0.90[CHB][hapmap]
rs6670921	0.90[CHB][hapmap]
rs7554249	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs973167	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9432848	C1orf52	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
2	chr1:85696400-85705600	Weak transcription	Fetal Heart	heart

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