Variant report

Variant	rs4687974
Chromosome Location	chr3:118867805-118867806
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr3:118867307-118868008	A549	lung:	n/a	n/a
2	FOS	chr3:118867419-118867977	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA2	chr3:118867259-118867877	A549	lung:	n/a	n/a
4	FOXA2	chr3:118867376-118867898	A549	lung:	n/a	n/a
5	FOS	chr3:118867591-118867960	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr3:118867240-118867842	A549	lung:	n/a	n/a
7	SP1	chr3:118867236-118867812	A549	lung:	n/a	n/a
8	FOS	chr3:118867677-118867976	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr3:118867638-118867950	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr3:118867349-118867909	IMR90	lung:	n/a	n/a
11	CEBPB	chr3:118867246-118867890	A549	lung:	n/a	n/a
12	STAT3	chr3:118867750-118867864	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118865607..118868236-chr3:118959699..118961355,2	K562	blood:
2	chr3:118867352..118868167-chr3:135969078..135969737,2	MCF-7	breast:

Variant related genes	Relation type
IGSF11	TF binding region
ENSG00000121578	Chromatin interaction
ENSG00000114054	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11916942	1.00[EUR][1000 genomes]
rs11917054	1.00[EUR][1000 genomes]
rs11919244	1.00[EUR][1000 genomes]
rs11921860	1.00[EUR][1000 genomes]
rs11922202	1.00[EUR][1000 genomes]
rs13327592	1.00[EUR][1000 genomes]
rs2099487	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2903300	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs4266184	0.81[AFR][1000 genomes]
rs4299470	0.81[AFR][1000 genomes]
rs4337633	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4444702	0.86[AFR][1000 genomes]
rs4446195	0.81[AFR][1000 genomes]
rs4446196	0.81[LWK][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs4544604	0.86[AFR][1000 genomes]
rs4687966	0.81[LWK][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs4687969	0.86[AFR][1000 genomes]
rs4687971	0.93[YRI][hapmap]
rs4687975	0.86[AFR][1000 genomes]
rs57447123	1.00[EUR][1000 genomes]
rs58369563	1.00[EUR][1000 genomes]
rs6438486	0.81[AFR][1000 genomes]
rs6438491	0.96[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs6438493	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6438498	0.86[AFR][1000 genomes]
rs6765436	1.00[ASW][hapmap]
rs6792631	1.00[ASW][hapmap]
rs6802690	0.81[AFR][1000 genomes]
rs9682347	1.00[EUR][1000 genomes]
rs9683131	1.00[EUR][1000 genomes]
rs9810251	1.00[EUR][1000 genomes]
rs9810388	1.00[EUR][1000 genomes]
rs9816004	0.86[AFR][1000 genomes]
rs9823555	0.86[AFR][1000 genomes]
rs9824383	1.00[EUR][1000 genomes]
rs9828041	1.00[EUR][1000 genomes]
rs9830074	1.00[EUR][1000 genomes]
rs9833418	1.00[YRI][hapmap]
rs9841997	1.00[EUR][1000 genomes]
rs9846150	1.00[EUR][1000 genomes]
rs9847851	1.00[EUR][1000 genomes]
rs9853937	1.00[EUR][1000 genomes]
rs9860820	1.00[EUR][1000 genomes]
rs9864127	0.81[LWK][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs9864893	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829692	chr3:118727772-118901711	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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
4	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118864800-118870000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:118864800-118874800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:118866600-118868000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:118867000-118868200	Enhancers	A549	lung
5	chr3:118867200-118868600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:118867400-118868400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:118867400-118868400	Enhancers	Osteobl	bone
8	chr3:118867400-118868600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:118867600-118868000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:118867600-118868000	Weak transcription	HMEC	breast
11	chr3:118867600-118868600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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