Variant report

Variant	rs73752419
Chromosome Location	chr5:44949030-44949031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11951477	0.85[AFR][1000 genomes]
rs11957933	0.85[AFR][1000 genomes]
rs57288883	0.80[AFR][1000 genomes]
rs61695869	1.00[EUR][1000 genomes]
rs6451785	0.85[AFR][1000 genomes]
rs6877331	0.85[AFR][1000 genomes]
rs6887363	1.00[EUR][1000 genomes]
rs6891637	0.80[AFR][1000 genomes]
rs73752417	1.00[EUR][1000 genomes]
rs73752418	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73752428	1.00[EUR][1000 genomes]
rs73752430	1.00[EUR][1000 genomes]
rs73752431	1.00[EUR][1000 genomes]
rs7702844	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722864	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736197	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv880483	chr5:44827292-45038026	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:44946200-44949600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:44946400-44951800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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