Variant report

Variant	rs2513724
Chromosome Location	chr11:57843609-57843610
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	STAT3	chr11:57843229-57843658	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr11:57843346-57843660	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr11:57843200-57843610	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:57843218-57843630	MCF10A-Er-Src	breast:	n/a	n/a
5	RCOR1	chr11:57842852-57844109	IMR90	lung:	n/a	n/a
6	FOS	chr11:57843194-57843694	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr11:57843245-57843621	HepG2	liver:	n/a	chr11:57843421-57843432
8	CEBPB	chr11:57843315-57843635	HepG2	liver:	n/a	n/a
9	FOS	chr11:57843233-57843657	MCF10A-Er-Src	breast:	n/a	n/a
10	RAD21	chr11:57843324-57843626	IMR90	lung:	n/a	n/a
11	FOS	chr11:57843156-57843667	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr11:57843233-57843677	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000254853	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10792136	0.83[JPT][hapmap]
rs12419399	1.00[CEU][hapmap]
rs1447170	0.83[JPT][hapmap];0.91[MEX][hapmap]
rs1868882	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2441962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441965	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap]
rs2441968	0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap]
rs2441976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441983	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2441984	0.82[CHB][hapmap]
rs2443448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513706	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs2514182	0.85[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2514190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2514192	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2514193	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2514194	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514195	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514207	0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs2514209	0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs3018838	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3974333	0.82[EUR][1000 genomes]
rs7120194	1.00[CEU][hapmap];0.83[CHD][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs7128490	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128761	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832165	chr11:57806024-58009076	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv523101	chr11:57843506-57871866	Enhancers Weak transcription	TF binding region	2 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	chr11:57826400-57845200	Weak transcription	Pancreas	Pancrea
2	chr11:57840800-57847200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:57842800-57844000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:57843000-57843800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:57843000-57844000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:57843000-57844000	Enhancers	HepG2	liver
7	chr11:57843000-57844000	Enhancers	NHEK	skin
8	chr11:57843000-57844200	Enhancers	HSMM	muscle
9	chr11:57843200-57844000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:57843400-57843800	Enhancers	HSMMtube	muscle
11	chr11:57843400-57844000	Enhancers	HMEC	breast

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