Variant report

Variant	rs235980
Chromosome Location	chr21:28537427-28537428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs17363202	0.89[EUR][1000 genomes]
rs17680914	0.84[EUR][1000 genomes]
rs1788311	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs1788314	1.00[CEU][hapmap]
rs235968	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2830729	0.84[EUR][1000 genomes]
rs2830745	0.89[EUR][1000 genomes]
rs2830748	0.89[EUR][1000 genomes]
rs2830750	0.89[EUR][1000 genomes]
rs2830753	0.89[EUR][1000 genomes]
rs377476	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs423416	0.84[EUR][1000 genomes]
rs432380	0.84[EUR][1000 genomes]
rs73192029	0.89[EUR][1000 genomes]
rs8129127	0.89[EUR][1000 genomes]
rs9305302	0.84[EUR][1000 genomes]
rs9305303	0.84[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	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs235980	GPR3	trans	brain	seeQTL
rs235980	SLC2A3	trans	brain	seeQTL
rs235980	NPAS4	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28537200-28537600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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