Variant report

Variant	rs458291
Chromosome Location	chr7:65520479-65520480
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 209 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:205)

rs_ID	r²[population]
rs1039664	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1061361	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1134256	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11538349	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1167613	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1177514	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12698508	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12698509	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12698511	0.87[ASN][1000 genomes]
rs13220979	0.81[EUR][1000 genomes]
rs13226598	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13233662	0.82[EUR][1000 genomes]
rs13236109	0.81[EUR][1000 genomes]
rs13246608	0.81[EUR][1000 genomes]
rs13247184	0.82[EUR][1000 genomes]
rs13308751	0.85[AMR][1000 genomes]
rs160543	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs160637	0.87[AMR][1000 genomes]
rs160638	0.87[AMR][1000 genomes]
rs160639	0.86[AMR][1000 genomes]
rs160642	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs160643	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs160644	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs160646	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs160648	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs160649	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs160651	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs160652	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs160653	0.96[ASN][1000 genomes]
rs160655	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs160656	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs160657	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1626926	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1701745	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1701750	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1701758	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1701759	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1715235	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723265	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1723266	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723267	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723269	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723270	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723272	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs182600	0.87[AMR][1000 genomes]
rs186378	0.87[AMR][1000 genomes]
rs188765	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1964692	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2177703	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2243480	0.84[AMR][1000 genomes]
rs2257790	0.82[AMR][1000 genomes]
rs2420171	0.80[AMR][1000 genomes]
rs2420172	0.80[AMR][1000 genomes]
rs2456483	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2460422	0.84[AMR][1000 genomes]
rs2460425	0.84[AMR][1000 genomes]
rs2460426	0.84[AMR][1000 genomes]
rs2460431	0.84[AMR][1000 genomes]
rs2462569	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2465120	0.84[AMR][1000 genomes]
rs2637561	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2658583	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2949697	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2961102	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105600	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs313798	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313799	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313800	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs313801	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313802	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313803	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313807	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs313808	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs313809	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs313813	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs313814	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs313819	0.87[AMR][1000 genomes]
rs313820	0.87[AMR][1000 genomes]
rs313822	0.87[AMR][1000 genomes]
rs313824	0.87[AMR][1000 genomes]
rs313831	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs313832	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs313833	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316304	0.84[AMR][1000 genomes]
rs316307	0.87[AMR][1000 genomes]
rs316313	0.87[AMR][1000 genomes]
rs316314	0.87[AMR][1000 genomes]
rs316315	0.81[AMR][1000 genomes]
rs316317	0.84[AMR][1000 genomes]
rs316318	0.84[AMR][1000 genomes]
rs316321	0.84[AMR][1000 genomes]
rs316322	0.84[AMR][1000 genomes]
rs316325	0.84[AMR][1000 genomes]
rs316326	0.84[AMR][1000 genomes]
rs316327	0.84[AMR][1000 genomes]
rs316329	0.84[AMR][1000 genomes]
rs316331	0.84[AMR][1000 genomes]
rs316333	0.80[AMR][1000 genomes]
rs316334	0.84[AMR][1000 genomes]
rs34032527	0.87[AMR][1000 genomes]
rs34136756	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34193460	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34529418	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34560516	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34577383	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34586068	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34628538	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34637256	0.81[EUR][1000 genomes]
rs34804747	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34933526	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34970380	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34974928	0.81[EUR][1000 genomes]
rs34983797	0.82[ASN][1000 genomes]
rs35046236	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35058610	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35087093	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35257008	0.82[EUR][1000 genomes]
rs35260440	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35268390	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35283677	0.82[EUR][1000 genomes]
rs35310401	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35391607	0.81[EUR][1000 genomes]
rs35396113	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35421653	0.82[EUR][1000 genomes]
rs35432774	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35480979	0.81[EUR][1000 genomes]
rs35542501	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35679560	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35689884	0.82[EUR][1000 genomes]
rs35820085	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36004293	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36033484	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36068983	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36084489	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36127118	0.82[AMR][1000 genomes]
rs383402	0.87[AMR][1000 genomes]
rs387676	0.84[AMR][1000 genomes]
rs392355	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs402418	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs403089	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs419603	0.84[AMR][1000 genomes]
rs422164	0.87[AMR][1000 genomes]
rs423187	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs427044	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs431076	0.84[AMR][1000 genomes]
rs431168	0.91[ASN][1000 genomes]
rs431318	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs437889	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs448377	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs451396	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs462853	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs465359	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs466983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718309	0.84[AMR][1000 genomes]
rs55700941	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55876148	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55886244	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55895244	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55909123	0.81[EUR][1000 genomes]
rs56016656	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56133509	0.82[EUR][1000 genomes]
rs56171161	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56291018	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56955188	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56985706	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57057549	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57126451	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58062456	0.81[EUR][1000 genomes]
rs58207111	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58330502	0.83[ASN][1000 genomes]
rs59794892	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59820001	0.82[ASN][1000 genomes]
rs59966766	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60683927	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6460274	0.84[AMR][1000 genomes]
rs67728539	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68189316	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6949812	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6970243	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6974723	0.80[AMR][1000 genomes]
rs709607	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73136349	0.84[AMR][1000 genomes]
rs73142137	0.82[EUR][1000 genomes]
rs73142162	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73142166	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73148097	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73150014	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73150016	0.85[ASN][1000 genomes]
rs7787230	0.84[AMR][1000 genomes]
rs7794661	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7795242	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs780453	0.87[AMR][1000 genomes]
rs7806717	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs781141	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs781142	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs781149	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs781150	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs781153	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs781154	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs781155	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs781156	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs781157	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs906134	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs937108	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs958550	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs458291	VKORC1L1	cis	Whole Blood	GTEx
rs458291	GUSB	cis	Whole Blood	GTEx
rs458291	ASL	cis	multi-tissue	Pritchard
rs458291	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs458291	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs458291	RP4-756H11.3	cis	lung	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65516000-65520800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:65517400-65520800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:65519400-65521000	Enhancers	NHDF-Ad	bronchial
4	chr7:65520000-65520800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:65520000-65520800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:65520200-65520800	Enhancers	NH-A	brain
7	chr7:65520200-65520800	Enhancers	Osteobl	bone
8	chr7:65520200-65521000	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:65520400-65520600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:65520400-65520600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:65520400-65520600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:65520400-65521000	Enhancers	Muscle Satellite Cultured Cells	--

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