Variant report

Variant	rs2823054
Chromosome Location	chr21:16465588-16465589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1003427	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[EUR][1000 genomes]
rs1005526	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1022450	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1556286	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2150369	0.94[EUR][1000 genomes]
rs2403877	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2823040	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2823042	0.85[CEU][hapmap]
rs2823049	0.88[EUR][1000 genomes]
rs2823056	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823058	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2823061	0.92[CEU][hapmap]
rs2823062	0.87[CEU][hapmap]
rs719112	0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7282412	0.93[CEU][hapmap]
rs760404	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9977308	0.88[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16465000-16466600	Enhancers	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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