Variant report

Variant	rs72813878
Chromosome Location	chr2:56225015-56225016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56224328..56225129-chr4:109541581..109542201,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109475	Chromatin interaction
ENSG00000234492	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10518794	0.85[EUR][1000 genomes]
rs55676306	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55749412	0.85[EUR][1000 genomes]
rs55811442	0.85[EUR][1000 genomes]
rs55845766	0.85[EUR][1000 genomes]
rs55912959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56058144	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56195925	1.00[EUR][1000 genomes]
rs56309449	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56412571	0.85[EUR][1000 genomes]
rs72813864	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813868	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813873	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813875	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813877	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813879	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813880	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813884	1.00[EUR][1000 genomes]
rs72813888	1.00[EUR][1000 genomes]
rs72813889	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813894	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813900	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72813901	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72813902	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72815903	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72815905	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815906	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815909	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815910	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815912	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7600678	1.00[EUR][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	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	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
3	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56220400-56225800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:56222000-56226000	Weak transcription	Osteobl	bone
3	chr2:56222000-56229600	Weak transcription	Fetal Stomach	stomach
4	chr2:56222400-56226200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:56222800-56225400	Weak transcription	Hela-S3	cervix
6	chr2:56223000-56226000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:56223200-56225200	Weak transcription	HUVEC	blood vessel

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