Variant report

Variant	rs354212
Chromosome Location	chr2:54928655-54928656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs187123	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241660	0.93[EUR][1000 genomes]
rs2666035	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931462	1.00[ASN][1000 genomes]
rs2941577	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941593	1.00[ASN][1000 genomes]
rs2941594	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs354219	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354220	0.90[EUR][1000 genomes]
rs354221	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354233	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136881	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62136882	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62136907	1.00[ASN][1000 genomes]
rs62140299	1.00[ASN][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:54922400-54935800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	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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