Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr1:169560140-169560457	K562	blood:	n/a	n/a
2	EGR1	chr1:169560193-169560590	MCF-7	breast:	n/a	n/a
3	STAT3	chr1:169560231-169560526	MCF10A-Er-Src	breast:	n/a	n/a
4	EGR1	chr1:169560135-169560593	HCT-116	colon:	n/a	n/a
5	STAT3	chr1:169560251-169560402	MCF10A-Er-Src	breast:	n/a	n/a
6	EGR1	chr1:169560135-169560482	ECC-1	luminal epithelium:	n/a	n/a
7	FOS	chr1:169560167-169560527	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:169560127-169560525	MCF10A-Er-Src	breast:	n/a	n/a
9	EGR1	chr1:169560210-169560457	K562	blood:	n/a	n/a
10	EGR1	chr1:169560171-169560670	HCT-116	colon:	n/a	n/a
11	FOS	chr1:169560227-169560507	MCF10A-Er-Src	breast:	n/a	n/a
12	EGR1	chr1:169560112-169560470	ECC-1	luminal epithelium:	n/a	n/a
13	FOS	chr1:169560176-169560515	MCF10A-Er-Src	breast:	n/a	n/a
14	EGR1	chr1:169560155-169560499	MCF-7	breast:	n/a	n/a
15	MYC	chr1:169560249-169560533	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr1:169560236-169560598	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
F5	TF binding region

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

rs_ID	r²[population]
rs10800458	0.95[ASN][1000 genomes]
rs12024736	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1894701	0.95[ASN][1000 genomes]
rs2213869	0.96[ASN][1000 genomes]
rs2269648	0.97[ASN][1000 genomes]
rs2298906	0.97[ASN][1000 genomes]
rs2298908	0.97[ASN][1000 genomes]
rs3766117	0.95[ASN][1000 genomes]
rs3766122	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4656690	0.95[ASN][1000 genomes]
rs6012	0.95[ASN][1000 genomes]
rs6022	0.95[ASN][1000 genomes]
rs6029	0.89[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6128	0.89[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6427201	0.95[ASN][1000 genomes]
rs6427203	0.95[ASN][1000 genomes]
rs724507	0.97[ASN][1000 genomes]
rs724509	0.97[ASN][1000 genomes]
rs7522982	0.95[ASN][1000 genomes]
rs7534848	0.95[ASN][1000 genomes]
rs7545236	0.95[ASN][1000 genomes]
rs9332570	0.95[ASN][1000 genomes]
rs9332580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9332581	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv872534	chr1:169533266-169561274	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3917843	LOC145474	trans	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169556400-169562000	Weak transcription	GM12878-XiMat	blood
2	chr1:169558600-169562400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:169558800-169570000	Weak transcription	Primary T cells from cord blood	blood
4	chr1:169559200-169562600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:169559200-169563400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:169559200-169570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:169559600-169561600	Enhancers	Liver	Liver

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