Variant report

Variant	rs56347546
Chromosome Location	chr7:80816298-80816299
allele	A/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	chr7:80816118-80816299	MCF10A-Er-Src	breast:	n/a	chr7:80816235-80816245 chr7:80816236-80816244
2	CEBPB	chr7:80816248-80816426	IMR90	lung:	n/a	chr7:80816258-80816269 chr7:80816401-80816414

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80814459..80816585-chr7:80820535..80822781,3	K562	blood:
2	chr7:80814937..80817852-chr7:80819181..80821334,2	K562	blood:

Variant related genes	Relation type
ENSG00000237896	TF binding region
ENSG00000226671	TF binding region
ENSG00000226671	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10282195	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11767232	0.87[EUR][1000 genomes]
rs11768393	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768454	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973996	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11975298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980049	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11982217	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11983345	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11984187	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16886981	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16887030	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17154836	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367225	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28470599	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3914075	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4606001	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55731316	0.94[AFR][1000 genomes]
rs55908333	0.94[AFR][1000 genomes]
rs56283988	0.94[AFR][1000 genomes]
rs56299732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56707960	0.94[AFR][1000 genomes]
rs56968902	0.84[AFR][1000 genomes]
rs57292892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57771152	0.94[AFR][1000 genomes]
rs58500032	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58631170	0.94[AFR][1000 genomes]
rs60103966	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60640315	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60859227	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73374738	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73374770	0.94[AFR][1000 genomes]
rs73374792	0.90[AFR][1000 genomes]
rs73378438	0.84[AFR][1000 genomes]
rs73384446	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73384451	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73384458	0.81[AFR][1000 genomes]
rs73384473	0.94[AFR][1000 genomes]
rs73384478	0.81[AFR][1000 genomes]
rs73384485	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73384500	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73386404	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7796420	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7812231	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs996722	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80803800-80819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80805000-80819800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:80812800-80816600	Weak transcription	Right Ventricle	heart
4	chr7:80815400-80817400	Enhancers	NHDF-Ad	bronchial
5	chr7:80815800-80817200	Enhancers	Osteobl	bone
6	chr7:80816200-80816800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:80816200-80817600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:80816200-80818000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:80816200-80820000	Weak transcription	Muscle Satellite Cultured Cells	--

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