Variant report

Variant	rs2052343
Chromosome Location	chr8:113205546-113205547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10105433	0.80[AMR][1000 genomes]
rs11786035	0.82[AMR][1000 genomes]
rs12114136	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420849	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1420850	0.80[AMR][1000 genomes]
rs1420851	0.81[AMR][1000 genomes]
rs1592624	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1592625	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1833320	0.82[AMR][1000 genomes]
rs1833321	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1895014	0.80[AMR][1000 genomes]
rs1895015	0.81[AMR][1000 genomes]
rs1895016	0.81[AMR][1000 genomes]
rs1895018	0.95[ASN][1000 genomes]
rs2052345	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243478	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2353273	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2883277	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4412394	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4876278	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876279	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876450	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876459	0.84[AMR][1000 genomes]
rs4876460	0.84[AMR][1000 genomes]
rs6983302	0.84[AMR][1000 genomes]
rs7003531	0.83[AMR][1000 genomes]
rs7816045	0.81[AMR][1000 genomes]
rs7830950	0.81[AMR][1000 genomes]
rs7835695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870523	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs888255	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs929684	0.81[AMR][1000 genomes]
rs9297467	0.81[AMR][1000 genomes]
rs950985	0.80[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	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv891321	chr8:112978128-113229425	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv891322	chr8:112978128-113267916	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 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	chr8:113205000-113207200	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr8:113205200-113207200	Enhancers	Skeletal Muscle Female	skeletal muscle

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