Variant report

Variant	rs7517690
Chromosome Location	chr1:166662705-166662706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166655859..166658235-chr1:166660920..166662905,2	K562	blood:
2	chr1:166660337..166665762-chr1:166666716..166670827,7	K562	blood:
3	chr1:166660337..166665266-chr1:166666489..166671728,7	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10047082	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10494466	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10800253	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10800256	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10918553	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10918554	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10918567	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11585016	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12074816	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12074860	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12082938	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12406568	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1631056	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs3125820	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs34311259	0.89[ASN][1000 genomes]
rs3904697	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3904700	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3904701	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4068473	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4090281	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4320765	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4393133	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4475724	0.82[ASN][1000 genomes]
rs4514220	0.81[CHB][hapmap]
rs4657570	0.82[CHB][hapmap]
rs4657587	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs471764	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs473746	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs475264	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs482905	0.81[CHB][hapmap]
rs484070	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs496095	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs500568	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs505012	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs505135	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs519135	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs527241	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs529740	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs530513	0.94[JPT][hapmap]
rs530690	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs535889	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs542999	0.89[ASN][1000 genomes]
rs553928	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs563206	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs566841	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs571669	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs579545	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs580432	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6676923	0.86[ASN][1000 genomes]
rs7523559	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7530194	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7539202	0.81[CHB][hapmap]
rs7540624	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2752389	chr1:166625342-166706342	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv947550	chr1:166647096-166673303	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7517690	ADAMTS4	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166660400-166665200	Enhancers	K562	blood
2	chr1:166662000-166663000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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