Variant report

Variant	rs73540848
Chromosome Location	chr16:48121633-48121634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55851123	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56009985	1.00[AMR][1000 genomes]
rs57099207	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57450977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57753446	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57859694	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58155673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58806759	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59378421	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59721874	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60093932	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60387445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60591237	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60734072	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61080373	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61280053	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61507438	1.00[AMR][1000 genomes]
rs61639468	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73539197	0.83[AFR][1000 genomes]
rs73539198	0.81[AFR][1000 genomes]
rs73539201	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540804	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540806	0.94[AFR][1000 genomes]
rs73540814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540815	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540818	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540821	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540823	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540824	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540825	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540828	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540849	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540851	1.00[AMR][1000 genomes]
rs73540857	1.00[AMR][1000 genomes]
rs73540863	1.00[AMR][1000 genomes]
rs73540867	1.00[AMR][1000 genomes]
rs74018244	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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases
2	esv2761906	chr16:48109727-48125855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS 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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48120000-48121800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:48120000-48122000	Enhancers	Psoas Muscle	Psoas
3	chr16:48120000-48122000	Enhancers	Right Ventricle	heart
4	chr16:48120000-48122200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr16:48120000-48122600	Enhancers	Left Ventricle	heart
6	chr16:48121200-48122400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr16:48121400-48121800	Enhancers	Fetal Muscle Leg	muscle
8	chr16:48121400-48122200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:48121400-48122600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:48121600-48121800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr16:48121600-48122200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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