Variant report

Variant	rs7003721
Chromosome Location	chr8:50794211-50794212
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10112818	0.83[CHD][hapmap]
rs10504093	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs10957679	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10957682	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1157932	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs11777957	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs11781675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11783503	1.00[CEU][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap]
rs11783631	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap]
rs11787050	0.89[ASN][1000 genomes]
rs12541363	0.84[CHB][hapmap]
rs12547245	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13267366	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1344326	1.00[CEU][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1486258	0.92[CHD][hapmap]
rs1486263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs1552377	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1586364	0.89[ASN][1000 genomes]
rs16913687	0.89[ASN][1000 genomes]
rs16914039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs170331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2015043	0.81[CHD][hapmap]
rs2170953	0.96[CHD][hapmap]
rs2247368	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2385554	0.89[CHD][hapmap]
rs2385696	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs2449960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2449962	0.82[AMR][1000 genomes]
rs2450286	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2450287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2450290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28869911	0.84[ASN][1000 genomes]
rs318850	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs318851	0.96[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap]
rs318853	0.96[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap]
rs318854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs318858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs318859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs318861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs318874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4242456	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs4873118	0.89[ASN][1000 genomes]
rs4873119	0.89[ASN][1000 genomes]
rs4873120	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs4873121	1.00[CEU][hapmap]
rs4873123	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs4873392	0.89[ASN][1000 genomes]
rs4873402	0.90[MEX][hapmap]
rs55879210	0.89[ASN][1000 genomes]
rs6472721	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6988440	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7004973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7010915	0.81[CHD][hapmap]
rs7014520	0.81[CHD][hapmap]
rs73676077	0.85[ASN][1000 genomes]
rs7388392	0.81[ASN][1000 genomes]
rs7828900	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs7833377	1.00[CEU][hapmap]
rs967107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs971926	0.81[CHD][hapmap]
rs974740	0.89[ASN][1000 genomes]
rs974742	0.89[ASN][1000 genomes]

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	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7003721	ETV3L	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50791000-50795400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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