Variant report

Variant	rs62216544
Chromosome Location	chr21:27964155-27964156
allele	A/T
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:18)

rs_ID	r²[population]
rs12626569	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12626994	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55717619	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55769509	0.84[AMR][1000 genomes]
rs55781601	0.91[AMR][1000 genomes]
rs56380215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56409945	0.91[AMR][1000 genomes]
rs62215670	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215679	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215708	1.00[ASN][1000 genomes]
rs62216528	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62216532	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62216538	0.84[AMR][1000 genomes]
rs62216541	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62216546	0.90[EUR][1000 genomes]
rs62216549	0.82[EUR][1000 genomes]
rs62216553	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180849	0.82[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	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv544413	chr21:27942060-28065995	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr21:27961000-27966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:27961000-27966200	Weak transcription	NHEK	skin
3	chr21:27963800-27964400	Enhancers	Foreskin Keratinocyte 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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