Variant report

Variant	rs314718
Chromosome Location	chr2:125564823-125564824
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12465517	0.81[YRI][hapmap]
rs12619535	0.84[CHD][hapmap]
rs12711693	0.86[JPT][hapmap]
rs1384528	0.82[EUR][1000 genomes]
rs1482836	0.83[MKK][hapmap]
rs17011975	0.88[CHD][hapmap];0.85[GIH][hapmap];0.89[MEX][hapmap]
rs2444589	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2602642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2602643	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs314700	0.81[CHD][hapmap]
rs314706	0.85[EUR][1000 genomes]
rs314710	0.84[CEU][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs314713	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314715	0.84[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap]
rs314719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs314720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314723	0.88[CHD][hapmap]
rs922863	0.84[CHD][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs314718	WDR33	cis	parietal	SCAN
rs314718	SAP130	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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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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