Variant report

Variant	rs4943055
Chromosome Location	chr13:52622915-52622916
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1000892	1.00[EUR][1000 genomes]
rs12870757	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17402262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17404248	1.00[EUR][1000 genomes]
rs17480245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17480469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17480693	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17482660	1.00[EUR][1000 genomes]
rs1886540	1.00[EUR][1000 genomes]
rs1886541	1.00[EUR][1000 genomes]
rs34288155	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35302368	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35370885	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35703449	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4438196	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4941717	0.85[AMR][1000 genomes]
rs4941722	0.85[AMR][1000 genomes]
rs4943047	0.85[AMR][1000 genomes]
rs4943052	0.85[AMR][1000 genomes]
rs4943053	0.85[AMR][1000 genomes]
rs55969405	1.00[EUR][1000 genomes]
rs71437831	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7320155	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7338832	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7991146	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv900082	chr13:52555288-52709938	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 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	chr13:52600400-52627600	Weak transcription	HSMMtube	muscle
2	chr13:52621400-52625600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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