Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169707608..169709249-chr1:169711620..169714505,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157398	0.88[JPT][hapmap]
rs10489177	0.82[MEX][hapmap]
rs10489178	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10800466	0.82[ASN][1000 genomes]
rs10800476	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs10800477	0.82[MEX][hapmap]
rs12063022	0.88[ASN][1000 genomes]
rs12127655	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12128754	0.82[MEX][hapmap]
rs12408179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2076059	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3917389	0.95[ASN][1000 genomes]
rs3917419	1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6427218	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6660124	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6693963	1.00[CEU][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7526645	0.88[ASN][1000 genomes]
rs7531675	0.95[ASN][1000 genomes]
rs7543618	0.93[ASN][1000 genomes]
rs7549412	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6427213	C1orf156	cis	cerebellum	SCAN
rs6427213	C1orf129	cis	cerebellum	SCAN
rs6427213	RNF212	trans	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169708800-169713800	Weak transcription	Left Ventricle	heart
2	chr1:169710400-169713800	Weak transcription	HUVEC	blood vessel
3	chr1:169710600-169713800	Weak transcription	Liver	Liver
4	chr1:169711000-169714200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:169711000-169714200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:169711000-169714200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:169711000-169714600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:169711200-169714600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:169711200-169714600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:169711400-169714400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:169711600-169713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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