Variant report

Variant	rs72917948
Chromosome Location	chr2:55713967-55713968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56390609	1.00[AMR][1000 genomes]
rs57298935	0.83[AMR][1000 genomes]
rs57883523	1.00[AMR][1000 genomes]
rs58772635	1.00[AMR][1000 genomes]
rs59796313	0.83[AMR][1000 genomes]
rs59822040	0.83[AMR][1000 genomes]
rs60097935	1.00[AMR][1000 genomes]
rs72917903	1.00[AMR][1000 genomes]
rs72917924	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917974	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919765	1.00[AMR][1000 genomes]
rs72919774	1.00[AMR][1000 genomes]
rs72919784	1.00[AMR][1000 genomes]
rs72921811	0.83[AMR][1000 genomes]
rs72921812	1.00[AMR][1000 genomes]
rs72923707	0.83[AMR][1000 genomes]
rs72923710	0.83[AMR][1000 genomes]
rs72923716	0.83[AMR][1000 genomes]
rs72930820	1.00[AMR][1000 genomes]
rs72930831	0.83[AMR][1000 genomes]
rs72930837	1.00[AMR][1000 genomes]
rs72930864	1.00[AMR][1000 genomes]
rs7581700	1.00[AMR][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	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
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55706400-55714600	Weak transcription	K562	blood
2	chr2:55710000-55716800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:55711000-55717000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:55711200-55714200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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