Variant report

Variant	rs4718319
Chromosome Location	chr7:65652784-65652785
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1000464	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10224872	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10228885	0.82[EUR][1000 genomes]
rs10240249	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10240949	0.83[EUR][1000 genomes]
rs10250544	0.81[EUR][1000 genomes]
rs10253922	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10256544	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10260426	0.82[EUR][1000 genomes]
rs10261398	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10263690	0.82[EUR][1000 genomes]
rs10268656	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10271553	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10272149	0.84[ASN][1000 genomes]
rs10276077	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10282433	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10447522	0.82[EUR][1000 genomes]
rs10950033	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1129531	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1167390	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1167399	0.82[AMR][1000 genomes]
rs1167406	0.82[AMR][1000 genomes]
rs11760844	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11971949	0.94[AFR][1000 genomes]
rs11974219	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11974264	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11984115	0.82[EUR][1000 genomes]
rs12531677	0.82[EUR][1000 genomes]
rs12534500	0.84[EUR][1000 genomes]
rs12537823	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13225383	0.83[AMR][1000 genomes]
rs13225672	0.80[EUR][1000 genomes]
rs13230545	0.82[EUR][1000 genomes]
rs13240492	0.91[AFR][1000 genomes]
rs13245728	0.88[AFR][1000 genomes]
rs13309935	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1532571	0.82[EUR][1000 genomes]
rs1540651	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1565531	0.83[AMR][1000 genomes]
rs1612452	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1616988	0.84[AMR][1000 genomes]
rs1875057	0.82[EUR][1000 genomes]
rs1976200	0.88[AFR][1000 genomes]
rs1983372	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2036263	0.83[EUR][1000 genomes]
rs2088653	0.81[EUR][1000 genomes]
rs2088655	0.83[EUR][1000 genomes]
rs2249458	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2420168	0.81[AMR][1000 genomes]
rs2420173	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2420174	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2460430	0.82[AMR][1000 genomes]
rs2460432	0.82[AMR][1000 genomes]
rs28391294	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28470208	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28491091	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2901152	0.83[EUR][1000 genomes]
rs2949696	0.84[AFR][1000 genomes]
rs34550048	0.82[ASN][1000 genomes]
rs34913718	0.81[EUR][1000 genomes]
rs35028832	0.83[AMR][1000 genomes]
rs35034167	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4078376	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4149461	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4236208	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4368860	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4587224	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4612218	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718324	0.82[EUR][1000 genomes]
rs4718328	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4718329	0.80[EUR][1000 genomes]
rs4718330	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57866200	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59466412	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62467451	0.80[ASN][1000 genomes]
rs6460278	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6460279	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6460282	0.85[EUR][1000 genomes]
rs6460284	0.82[EUR][1000 genomes]
rs6460287	0.82[EUR][1000 genomes]
rs6460290	0.83[EUR][1000 genomes]
rs6460293	0.81[EUR][1000 genomes]
rs6944374	0.85[EUR][1000 genomes]
rs6951503	0.82[EUR][1000 genomes]
rs6951787	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6952182	0.85[EUR][1000 genomes]
rs6952473	0.81[EUR][1000 genomes]
rs6957690	0.86[AFR][1000 genomes]
rs6958294	0.82[EUR][1000 genomes]
rs6959268	0.82[EUR][1000 genomes]
rs6960446	0.82[EUR][1000 genomes]
rs6964437	0.85[EUR][1000 genomes]
rs6967708	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971752	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6974614	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6979452	0.81[EUR][1000 genomes]
rs709596	0.83[EUR][1000 genomes]
rs709608	0.84[AMR][1000 genomes]
rs709609	0.83[AMR][1000 genomes]
rs7782704	0.83[EUR][1000 genomes]
rs7782806	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783779	0.82[EUR][1000 genomes]
rs778680	0.82[EUR][1000 genomes]
rs778684	0.83[EUR][1000 genomes]
rs778686	0.83[EUR][1000 genomes]
rs7786892	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs778724	0.83[EUR][1000 genomes]
rs778728	0.80[EUR][1000 genomes]
rs778734	0.83[EUR][1000 genomes]
rs778736	0.81[EUR][1000 genomes]
rs7787482	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7796162	0.81[EUR][1000 genomes]
rs7798630	0.82[EUR][1000 genomes]
rs7809814	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs880166	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs908915	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs949930	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9767916	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs4718319	RP4-756H11.3	cis	Artery Tibial	GTEx
rs4718319	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4718319	GS1-124K5.4	cis	Skin Sun Exposed Lower leg	GTEx
rs4718319	RP4-756H11.3	cis	Thyroid	GTEx
rs4718319	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs4718319	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs4718319	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs4718319	GS1-124K5.2	cis	Whole Blood	GTEx
rs4718319	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs4718319	LINC00174	cis	Thyroid	GTEx
rs4718319	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs4718319	RNU6-96P	cis	Thyroid	GTEx
rs4718319	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs4718319	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs4718319	GS1-124K5.11	cis	Thyroid	GTEx
rs4718319	RP4-756H11.3	cis	lung	GTEx
rs4718319	GTF2IRD1P1	cis	Thyroid	GTEx
rs4718319	GS1-124K5.4	cis	Stomach	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65650000-65654600	Weak transcription	HepG2	liver
2	chr7:65652200-65653000	Enhancers	Fetal Intestine Small	intestine
3	chr7:65652200-65653400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:65652400-65653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:65652400-65656200	Enhancers	Liver	Liver
6	chr7:65652600-65653000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:65652600-65653000	Enhancers	Fetal Intestine Large	intestine
8	chr7:65652600-65653200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:65652600-65653200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:65652600-65653400	Enhancers	NHDF-Ad	bronchial

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