Variant report

Variant	rs72801148
Chromosome Location	chr2:56394594-56394595
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	chr2:56387289..56389369-chr2:56393881..56395588,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10174651	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10177559	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55721408	0.87[AMR][1000 genomes]
rs55736515	0.87[AMR][1000 genomes]
rs55880086	0.87[AMR][1000 genomes]
rs55909962	0.87[AMR][1000 genomes]
rs56242550	0.87[AMR][1000 genomes]
rs72798921	0.87[AMR][1000 genomes]
rs72798923	0.87[AMR][1000 genomes]
rs72798924	0.87[AMR][1000 genomes]
rs72798927	0.87[AMR][1000 genomes]
rs72798941	0.87[AMR][1000 genomes]
rs72798942	0.87[AMR][1000 genomes]
rs72798943	0.87[AMR][1000 genomes]
rs72798945	0.87[AMR][1000 genomes]
rs72798959	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798960	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798966	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798967	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798971	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798977	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798978	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798982	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798983	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798984	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798986	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798987	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798989	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72798998	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72799000	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72801113	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72801116	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72801123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv874169	chr2:56383762-56473480	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2762648	chr2:56386656-56422448	Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:56378800-56403000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:56387400-56397400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:56394000-56395400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:56394400-56395000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:56394400-56395200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:56394400-56396200	Enhancers	Adipose Nuclei	Adipose
7	chr2:56394400-56397400	Enhancers	HSMMtube	muscle

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