Variant report

Variant	rs3856420
Chromosome Location	chr2:187836978-187836979
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10205822	0.93[CEU][hapmap]
rs10931267	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11675678	0.93[EUR][1000 genomes]
rs12464291	0.88[EUR][1000 genomes]
rs12465733	0.93[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12469871	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12471570	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12476385	0.93[EUR][1000 genomes]
rs12614343	0.93[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap]
rs13000137	0.81[ASN][1000 genomes]
rs13431778	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2370734	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2370735	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2370737	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2887838	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34460383	0.81[ASN][1000 genomes]
rs34938912	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35252928	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3845713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4093127	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4277485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4667133	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667138	0.93[CEU][hapmap]
rs56121767	0.81[ASN][1000 genomes]
rs7602307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7602536	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7602852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3856420	CALCRL	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187836600-187837600	Enhancers	K562	blood

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