Variant report

Variant	rs694581
Chromosome Location	chr1:91706425-91706426
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10493845	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes]
rs10801850	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10801851	0.85[YRI][hapmap]
rs10801862	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs10923007	0.81[AMR][1000 genomes]
rs10923010	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs1158436	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12093493	0.81[AMR][1000 genomes]
rs12564233	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs12568483	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs1307751	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1583817	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1583818	0.93[ASW][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1595868	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131417	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs1822056	0.85[YRI][hapmap]
rs192519	0.86[CHD][hapmap];0.92[JPT][hapmap]
rs2033915	0.84[AMR][1000 genomes]
rs281935	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs281956	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs281959	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs281966	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs281968	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs281979	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs281990	0.86[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap]
rs281992	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs281996	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs281997	0.92[JPT][hapmap]
rs281998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs4658202	0.80[ASN][1000 genomes]
rs4658220	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs4658221	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs4658222	1.00[JPT][hapmap]
rs582737	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59973709	0.97[ASN][1000 genomes]
rs628897	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs661989	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67274437	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs678752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681589	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs683765	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7417055	1.00[ASW][hapmap];0.92[CEU][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7521314	0.81[AMR][1000 genomes]
rs876761	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs9324372	0.83[CHD][hapmap];0.92[JPT][hapmap]
rs9660037	0.83[ASN][1000 genomes]
rs9662393	0.83[ASN][1000 genomes]
rs9724763	0.82[ASN][1000 genomes]
rs988203	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs694581	CCDC18	cis	parietal	SCAN
rs694581	SNORD21	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91706000-91707000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:91706200-91706600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:91706400-91706800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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