Variant report

Variant	rs11694304
Chromosome Location	chr2:56182118-56182119
allele	C/G
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	FOS	chr2:56181819-56182159	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr2:56181805-56182200	IMR90	lung:	n/a	chr2:56182021-56182032 chr2:56182021-56182034 chr2:56182021-56182032 chr2:56181888-56181899 chr2:56182022-56182033
3	STAT3	chr2:56182021-56182445	MCF10A-Er-Src	breast:	n/a	chr2:56182277-56182288
4	CEBPB	chr2:56181966-56182148	HepG2	liver:	n/a	chr2:56182021-56182032 chr2:56182021-56182034 chr2:56182021-56182032 chr2:56182022-56182033
5	POLR2A	chr2:56181805-56182187	U87	brain:	n/a	n/a
6	EP300	chr2:56181794-56182335	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:56181116-56182923	HUVEC	blood vessel:	n/a	n/a
8	FOS	chr2:56181814-56182195	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr2:56181501-56182220	Hela-S3	cervix:	n/a	chr2:56182021-56182032 chr2:56182021-56182034 chr2:56182021-56182032 chr2:56181888-56181899 chr2:56182022-56182033
10	MYC	chr2:56181858-56182120	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr2:56181503-56182892	HUVEC	blood vessel:	n/a	n/a
12	FOS	chr2:56181773-56182197	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr2:56181615-56182202	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr2:56181792-56182154	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr2:56181867-56182163	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56174984..56177810-chr2:56181564..56184235,2	K562	blood:

Variant related genes	Relation type
RN7SKP208	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12617071	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713310	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1432562	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1465684	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17047355	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279016	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2163714	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2903839	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671264	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57062472	0.80[EUR][1000 genomes]
rs62164500	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62164511	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62164513	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6710105	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6718634	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6721284	0.84[ASN][1000 genomes]
rs6732479	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6749890	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6752225	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72811742	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7563487	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56171000-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:56178000-56185200	Weak transcription	Right Atrium	heart
3	chr2:56180000-56188800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:56180200-56183800	Weak transcription	Ovary	ovary
5	chr2:56181200-56182600	Enhancers	Fetal Lung	lung
6	chr2:56181400-56182400	Active TSS	Stomach Smooth Muscle	stomach
7	chr2:56181400-56182400	Enhancers	HUVEC	blood vessel
8	chr2:56181400-56182600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:56181400-56182600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:56181400-56182600	Enhancers	Hela-S3	cervix
11	chr2:56181600-56182600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:56181600-56182600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:56181800-56182200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:56181800-56182400	Enhancers	NH-A	brain
15	chr2:56181800-56182600	Flanking Active TSS	Osteobl	bone
16	chr2:56182000-56182200	Active TSS	Adipose Nuclei	Adipose
17	chr2:56182000-56182200	Bivalent/Poised TSS	NHDF-Ad	bronchial

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