Variant report

Variant	rs451034
Chromosome Location	chr8:50808334-50808335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10096242	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112215	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs10112818	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs1023979	0.81[JPT][hapmap]
rs10504093	0.88[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10957679	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10957681	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957682	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10957739	0.81[JPT][hapmap]
rs10957741	0.81[JPT][hapmap]
rs1157932	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11773979	0.87[ASN][1000 genomes]
rs11777957	0.87[JPT][hapmap]
rs11782772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11783503	0.85[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap]
rs11783631	0.88[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap]
rs11786880	0.84[EUR][1000 genomes]
rs11787050	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12541363	0.87[JPT][hapmap]
rs12542536	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12545695	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12547245	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12679386	0.80[ASN][1000 genomes]
rs13252824	0.80[ASN][1000 genomes]
rs13264385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13273334	0.81[JPT][hapmap]
rs1344326	0.85[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs1352114	0.81[JPT][hapmap]
rs1385976	0.80[ASN][1000 genomes]
rs1385980	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1484805	0.81[JPT][hapmap]
rs1486258	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1486263	0.96[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1552377	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1552378	0.87[ASN][1000 genomes]
rs1552379	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1552380	0.88[JPT][hapmap]
rs1586364	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16913687	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16914039	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs170331	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1843607	0.81[ASN][1000 genomes]
rs2015043	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs2086888	0.81[JPT][hapmap]
rs2129161	0.87[JPT][hapmap]
rs2129169	0.87[JPT][hapmap]
rs2170953	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2220157	0.87[JPT][hapmap]
rs2247368	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2385531	0.81[JPT][hapmap]
rs2385548	0.83[ASN][1000 genomes]
rs2385554	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2385696	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2385697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2449960	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2449961	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2449962	0.90[AMR][1000 genomes]
rs2449963	0.81[JPT][hapmap]
rs2450286	0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2450287	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2450290	0.96[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2628420	0.88[AMR][1000 genomes]
rs28869911	0.81[ASN][1000 genomes]
rs318850	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs318851	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs318853	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs318854	0.86[CHB][hapmap];0.88[AMR][1000 genomes]
rs318858	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs318859	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs318861	0.96[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs318867	0.81[JPT][hapmap]
rs318874	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs318913	0.81[JPT][hapmap]
rs379601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812424	0.81[ASN][1000 genomes]
rs3812426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs404309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404686	1.00[AMR][1000 genomes]
rs412929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242456	0.87[JPT][hapmap]
rs4460388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs453906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873118	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873119	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873120	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873123	0.87[JPT][hapmap]
rs4873367	0.81[JPT][hapmap]
rs4873392	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873402	0.90[MEX][hapmap]
rs55780592	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55879210	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6472789	0.94[AFR][1000 genomes]
rs6472838	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6472839	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6984738	0.95[ASN][1000 genomes]
rs6988440	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6991925	0.88[JPT][hapmap]
rs7002291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7002909	0.95[ASN][1000 genomes]
rs7003221	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7004973	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7008449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7010915	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs7014520	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs73676077	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7388392	0.84[EUR][1000 genomes]
rs7827777	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7828900	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833377	0.81[JPT][hapmap]
rs923058	0.81[JPT][hapmap]
rs923060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs931293	0.87[JPT][hapmap]
rs931294	0.87[JPT][hapmap]
rs9643685	0.87[ASN][1000 genomes]
rs9643689	0.81[JPT][hapmap]
rs9643692	0.81[JPT][hapmap]
rs967107	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs971926	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs974740	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs974742	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs993553	0.87[JPT][hapmap];0.83[AMR][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
rs451034	ETV3L	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50807600-50809800	Enhancers	Fetal Intestine Large	intestine
2	chr8:50808000-50809200	Enhancers	Fetal Intestine Small	intestine
3	chr8:50808000-50809800	Enhancers	Liver	Liver

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