Variant report

Variant	rs717848
Chromosome Location	chrX:57433303-57433304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1048358	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs1073967	0.93[CEU][hapmap];0.93[JPT][hapmap]
rs10855185	0.92[ASW][hapmap];0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs1113635	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap]
rs1116848	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap]
rs1160711	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs12393264	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap]
rs12559310	0.92[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap]
rs12687268	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12688558	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12689809	0.93[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap]
rs12689811	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1367830	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs1431677	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs1469592	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1560514	0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs1583200	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1586242	0.86[YRI][hapmap]
rs1594503	0.85[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs1594506	0.95[YRI][hapmap]
rs1594508	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1601317	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1601318	0.93[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap]
rs1835692	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1835693	0.91[YRI][hapmap]
rs1835696	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1835698	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1864695	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1864697	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1997715	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs2015312	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap]
rs2060113	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs2116364	0.92[ASW][hapmap];0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap]
rs2116365	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs2116366	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2163537	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2195766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs2213510	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2217529	0.91[YRI][hapmap]
rs2352862	0.82[YRI][hapmap]
rs2499549	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2499550	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2499555	0.93[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs2516019	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2516020	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2516023	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs2982252	0.91[YRI][hapmap]
rs2982254	0.91[YRI][hapmap]
rs3015275	0.91[YRI][hapmap]
rs4030473	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs4129399	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs4319228	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4326513	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4342754	0.84[YRI][hapmap]
rs4557841	0.80[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap]
rs4587468	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs4607761	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs4826346	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap]
rs4826349	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4826550	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs4826551	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826553	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs4826568	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs5914074	0.85[ASW][hapmap];0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap]
rs5914084	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5914085	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5914095	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914097	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap]
rs5914100	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914107	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914118	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5914961	0.95[YRI][hapmap]
rs5914962	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs5914980	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5914993	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5914994	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs5914999	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap]
rs5915005	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap]
rs5915016	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5915019	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs5915027	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs5915047	0.91[YRI][hapmap]
rs5915052	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap]
rs5960270	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs5960951	0.85[ASW][hapmap];0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap]
rs5960956	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap]
rs5960960	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap]
rs5960961	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs5960969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs5960970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5960975	0.86[YRI][hapmap]
rs5960980	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6611612	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6611615	0.87[CHD][hapmap]
rs6611626	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs6612796	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs7059676	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7885658	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs957721	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs980735	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][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	nsv519013	chrX:57405163-57928734	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs717848	SPIN-2	cis	multi-tissue	Pritchard

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57419800-57436800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chrX:57432400-57434000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chrX:57433000-57433600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chrX:57433000-57433800	Enhancers	Fetal Heart	heart

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