Variant report

Variant	rs72798927
Chromosome Location	chr2:56280007-56280008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56275921..56278050-chr2:56279081..56281372,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10174651	0.89[EUR][1000 genomes]
rs10177559	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55721408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55736515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55880086	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55909962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56242550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798921	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72798922	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72798923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798941	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72798942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798959	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72798960	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72798966	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72798967	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72798971	0.89[EUR][1000 genomes]
rs72798977	0.89[EUR][1000 genomes]
rs72798978	0.89[EUR][1000 genomes]
rs72798982	0.89[EUR][1000 genomes]
rs72798983	0.89[EUR][1000 genomes]
rs72798984	0.89[EUR][1000 genomes]
rs72798986	0.89[EUR][1000 genomes]
rs72798987	0.89[EUR][1000 genomes]
rs72798989	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72798998	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72799000	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72801113	0.83[EUR][1000 genomes]
rs72801116	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72801123	0.87[AMR][1000 genomes]
rs72801125	0.87[AMR][1000 genomes]
rs72801126	0.87[AMR][1000 genomes]
rs72801136	0.87[AMR][1000 genomes]
rs72801146	0.87[AMR][1000 genomes]
rs72801148	0.87[AMR][1000 genomes]
rs72815915	0.82[EUR][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	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
4	nsv520175	chr2:56228351-56331375	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv34703	chr2:56272949-56382181	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56272000-56281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:56276800-56280600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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