Variant report

Variant	rs7685462
Chromosome Location	chr4:122875092-122875093
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11098650	0.87[EUR][1000 genomes]
rs11728898	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs13123547	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs13124223	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs13147748	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs1396082	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34306906	0.92[EUR][1000 genomes]
rs3924607	0.92[CEU][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs4833779	0.88[CEU][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs6534330	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67798230	0.91[EUR][1000 genomes]
rs950571	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs950572	0.94[EUR][1000 genomes]
rs950573	0.95[EUR][1000 genomes]
rs950574	0.96[CEU][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1843861	chr4:122871632-122878371	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	esv1844606	chr4:122871632-122878371	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7685462	CCNA2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122873800-122875200	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr4:122874600-122875200	Enhancers	K562	blood

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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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