Variant report

Variant	rs12557467
Chromosome Location	chrX:55665464-55665465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1005612	0.82[CEU][hapmap];0.96[GIH][hapmap]
rs1007153	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs11545211	0.82[CEU][hapmap];0.92[GIH][hapmap]
rs12688603	0.92[ASW][hapmap];0.82[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs1325573	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1473760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17277280	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1927597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2375465	0.85[YRI][hapmap]
rs2375466	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs2473057	0.92[ASW][hapmap];0.82[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs2499861	0.82[CEU][hapmap];0.96[GIH][hapmap]
rs3002630	0.87[GIH][hapmap]
rs4826281	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826283	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826287	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs4826413	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5000659	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5913857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5914428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5914432	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs5914433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914436	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5914440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5960093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6611431	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs913440	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410436	chrX:55229677-55671986	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv524155	chrX:55508099-55689174	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12557467	RRAGB	cis	lymphoblastoid	seeQTL
rs12557467	SPIN-2	cis	multi-tissue	Pritchard

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

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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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