Variant report

Variant	rs4718187
Chromosome Location	chr7:64481966-64481967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 39 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10229485	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10234467	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10237971	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10243523	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10252925	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10949955	0.88[CEU][hapmap]
rs10949959	0.82[EUR][1000 genomes]
rs10949962	0.81[EUR][1000 genomes]
rs11760504	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11764811	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767448	0.81[EUR][1000 genomes]
rs11769801	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11771529	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12056025	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12056103	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12333999	0.83[AFR][1000 genomes]
rs12533804	0.81[EUR][1000 genomes]
rs12666885	0.84[EUR][1000 genomes]
rs12669596	0.85[EUR][1000 genomes]
rs13222578	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13226855	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13229762	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13232826	0.81[EUR][1000 genomes]
rs13233376	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13238842	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13245081	0.81[EUR][1000 genomes]
rs1540833	0.92[CEU][hapmap]
rs1709515	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1818916	0.89[CEU][hapmap];0.83[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1967609	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1967610	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2091224	0.92[CEU][hapmap]
rs2103148	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2140724	1.00[YRI][hapmap]
rs2419256	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28510371	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28835689	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28872832	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2900856	0.81[YRI][hapmap]
rs3088174	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34171289	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34198302	0.83[EUR][1000 genomes]
rs34201260	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34346758	0.81[EUR][1000 genomes]
rs34362307	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34438629	0.82[EUR][1000 genomes]
rs34636014	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34639489	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34897549	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35079894	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35513558	0.89[CEU][hapmap]
rs35586133	0.82[EUR][1000 genomes]
rs35679667	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35924077	0.82[EUR][1000 genomes]
rs35953728	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3807068	0.92[CEU][hapmap]
rs3807069	0.85[CEU][hapmap]
rs3823471	0.93[CEU][hapmap]
rs3982216	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4266535	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4379351	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4451193	0.83[EUR][1000 genomes]
rs4481471	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4717235	0.81[EUR][1000 genomes]
rs4717236	0.81[EUR][1000 genomes]
rs4717238	0.81[EUR][1000 genomes]
rs4717239	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4718180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718190	0.96[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs55762719	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55959098	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56009162	0.81[EUR][1000 genomes]
rs56294715	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56303509	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56340521	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58134413	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455989	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62455992	0.91[ASN][1000 genomes]
rs62457195	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6460216	0.89[CEU][hapmap]
rs66688157	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67499519	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67896886	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6947903	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6950807	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6955268	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6960448	0.81[ASN][1000 genomes]
rs6961678	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6962429	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6965099	0.86[EUR][1000 genomes]
rs6965753	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6971128	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6974079	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6978332	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73141327	0.86[EUR][1000 genomes]
rs7383888	0.80[EUR][1000 genomes]
rs7780100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7801355	0.84[EUR][1000 genomes]
rs7806567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7811966	0.81[EUR][1000 genomes]
rs9638417	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9647852	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9770557	0.83[AMR][1000 genomes]
rs9770631	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv970505	chr7:64441807-64494987	ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
17	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
19	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
20	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
21	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
22	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
23	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:39)

SNP	Gene	Cis/trans	Tissue	Source
rs4718187	RP11-460N20.5	cis	Thyroid	GTEx
rs4718187	RP11-460N20.4	cis	Esophagus Muscularis	GTEx
rs4718187	CCT6P3	cis	Whole Blood	GTEx
rs4718187	RP11-797H7.5	cis	Thyroid	GTEx
rs4718187	RP11-797H7.3	cis	Thyroid	GTEx
rs4718187	CCT6P3	cis	Adipose Subcutaneous	GTEx
rs4718187	RP11-460N20.5	cis	Adipose Subcutaneous	GTEx
rs4718187	RP11-797H7.3	cis	lung	GTEx
rs4718187	ZNF273	cis	lung	GTEx
rs4718187	CCT6P3	cis	Esophagus Mucosa	GTEx
rs4718187	RP11-460N20.5	cis	lung	GTEx
rs4718187	RP11-460N20.5	cis	Whole Blood	GTEx
rs4718187	RP11-460N20.5	cis	Esophagus Mucosa	GTEx
rs4718187	RP11-797H7.3	cis	Nerve Tibial	GTEx
rs4718187	CCT6P3	cis	Nerve Tibial	GTEx
rs4718187	RP11-460N20.5	cis	Nerve Tibial	GTEx
rs4718187	RP11-460N20.4	cis	lung	GTEx
rs4718187	RP11-667F9.1	cis	Nerve Tibial	GTEx
rs4718187	RP11-797H7.5	cis	Skin Sun Exposed Lower leg	GTEx
rs4718187	RP11-460N20.5	cis	Artery Tibial	GTEx
rs4718187	INTS4L1	cis	Esophagus Muscularis	GTEx
rs4718187	RP11-460N20.4	cis	Nerve Tibial	GTEx
rs4718187	RP11-797H7.3	cis	Artery Tibial	GTEx
rs4718187	AC104057.1	cis	Adipose Subcutaneous	GTEx
rs4718187	INTS4L1	cis	Adipose Subcutaneous	GTEx
rs4718187	CCT6P3	cis	Skin Sun Exposed Lower leg	GTEx
rs4718187	RP11-797H7.3	cis	Whole Blood	GTEx
rs4718187	CCT6P3	cis	lung	GTEx
rs4718187	ZNF273	cis	Thyroid	GTEx
rs4718187	RP11-460N20.4	cis	Esophagus Mucosa	GTEx
rs4718187	RP11-797H7.3	cis	Adipose Subcutaneous	GTEx
rs4718187	RP11-667F9.1	cis	Adipose Subcutaneous	GTEx
rs4718187	INTS4L1	cis	Skin Sun Exposed Lower leg	GTEx
rs4718187	INTS4L1	cis	Nerve Tibial	GTEx
rs4718187	RP11-460N20.5	cis	Artery Aorta	GTEx
rs4718187	ERV3-1	cis	Artery Aorta	GTEx
rs4718187	RP11-797H7.5	cis	Adipose Subcutaneous	GTEx
rs4718187	RP11-460N20.4	cis	Adipose Subcutaneous	GTEx
rs4718187	RP11-797H7.5	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64481400-64482000	Weak transcription	Fetal Intestine Large	intestine
2	chr7:64481600-64482200	Enhancers	HepG2	liver
3	chr7:64481800-64482200	Enhancers	Fetal Lung	lung

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