Variant report

Variant	rs57244257
Chromosome Location	chr6:80543826-80543827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16891071	1.00[AMR][1000 genomes]
rs4475294	1.00[AMR][1000 genomes]
rs59857395	1.00[AMR][1000 genomes]
rs60487643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463469	1.00[AMR][1000 genomes]
rs73463498	1.00[AMR][1000 genomes]
rs73465409	1.00[AMR][1000 genomes]
rs73465417	1.00[AMR][1000 genomes]
rs73465431	1.00[AMR][1000 genomes]
rs73465437	1.00[AMR][1000 genomes]
rs73465453	1.00[AMR][1000 genomes]
rs73465462	1.00[AMR][1000 genomes]
rs73465471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73465478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73465490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73465492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73465496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467422	0.89[AFR][1000 genomes]
rs73467446	1.00[AMR][1000 genomes]
rs73467451	1.00[AMR][1000 genomes]
rs73467456	1.00[AMR][1000 genomes]
rs73467458	1.00[AMR][1000 genomes]
rs73467465	1.00[AMR][1000 genomes]
rs73467468	1.00[AMR][1000 genomes]
rs73467479	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469630	1.00[AMR][1000 genomes]
rs73471893	1.00[AMR][1000 genomes]
rs73474017	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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1021143	chr6:80400195-80598163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3693359	chr6:80539454-80606537	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80542600-80544000	Enhancers	Fetal Brain Male	brain
2	chr6:80543000-80544000	Enhancers	Fetal Lung	lung
3	chr6:80543600-80544200	Enhancers	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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