Variant report

Variant	rs314712
Chromosome Location	chr2:125567543-125567544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1823819	0.85[CHB][hapmap];0.89[CHD][hapmap]
rs2685173	0.85[CHB][hapmap]
rs314701	0.85[CHB][hapmap]
rs314702	0.85[CHB][hapmap];1.00[CHD][hapmap]
rs314704	0.85[CHB][hapmap]
rs314705	0.85[CHB][hapmap];1.00[CHD][hapmap]
rs314707	0.83[CEU][hapmap];0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs314709	0.83[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap]
rs314711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314716	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs314721	0.83[CEU][hapmap];0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs314722	0.81[CHD][hapmap]
rs314724	0.81[CHD][hapmap]
rs896890	0.85[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834360	chr2:125492685-125683200	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs314712	SEC16A	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125566200-125568600	Enhancers	Fetal Heart	heart

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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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