Variant report

Variant	rs3914147
Chromosome Location	chr2:167916046-167916047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13017014	0.87[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs13017352	0.82[EUR][1000 genomes]
rs13417677	0.94[CEU][hapmap];0.98[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap]
rs1511202	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1511203	0.83[EUR][1000 genomes]
rs1511209	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs16852883	0.81[CEU][hapmap]
rs2043060	0.81[EUR][1000 genomes]
rs35472201	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

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	nsv529384	chr2:167143465-167958752	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875376	chr2:167844513-168037489	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3398132	chr2:167915606-167919204	Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3914147	SP5	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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