Variant report

Variant	rs2047317
Chromosome Location	chr5:113660220-113660221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10076718	1.00[AMR][1000 genomes]
rs1058999	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1457763	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1496387	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1965887	0.83[AFR][1000 genomes]
rs28572100	1.00[AMR][1000 genomes]
rs56202232	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56864172	1.00[AMR][1000 genomes]
rs58444912	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344266	1.00[AMR][1000 genomes]
rs60280422	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60765010	1.00[AMR][1000 genomes]
rs60989400	1.00[AMR][1000 genomes]
rs6859935	1.00[AMR][1000 genomes]
rs73779790	1.00[AMR][1000 genomes]
rs73779794	1.00[AMR][1000 genomes]
rs73782204	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782216	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782223	1.00[AMR][1000 genomes]
rs991776	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882728	chr5:113651694-113731423	Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:113660000-113662000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:113660000-113662000	Enhancers	HUVEC	blood vessel

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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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