Variant report

Variant	rs4516940
Chromosome Location	chr6:27374818-27374819
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs10080555	0.96[ASN][1000 genomes]
rs10080558	0.95[ASN][1000 genomes]
rs10080567	0.96[ASN][1000 genomes]
rs10080569	0.96[ASN][1000 genomes]
rs10080571	0.96[ASN][1000 genomes]
rs10080814	0.96[ASN][1000 genomes]
rs1022515	0.96[ASN][1000 genomes]
rs1022517	0.96[ASN][1000 genomes]
rs1022518	0.96[ASN][1000 genomes]
rs10484396	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10484397	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10755644	0.90[ASN][1000 genomes]
rs10807020	0.96[ASN][1000 genomes]
rs10807021	0.96[ASN][1000 genomes]
rs10807022	0.96[ASN][1000 genomes]
rs10807023	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10946913	0.96[ASN][1000 genomes]
rs10946914	0.96[ASN][1000 genomes]
rs10946916	0.98[ASN][1000 genomes]
rs10946917	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10946918	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10946919	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11966173	0.92[ASN][1000 genomes]
rs12195788	0.96[ASN][1000 genomes]
rs12197858	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12199110	0.81[ASN][1000 genomes]
rs12200018	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12205189	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12212288	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12212293	0.94[ASN][1000 genomes]
rs12525255	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12525266	0.98[ASN][1000 genomes]
rs12525544	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12528904	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12529840	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12662076	0.96[ASN][1000 genomes]
rs13207099	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13215216	0.92[ASN][1000 genomes]
rs13217798	0.96[ASN][1000 genomes]
rs1534936	0.96[ASN][1000 genomes]
rs1534937	0.96[ASN][1000 genomes]
rs1569566	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1883402	0.84[ASN][1000 genomes]
rs1883404	0.94[ASN][1000 genomes]
rs1883405	0.94[ASN][1000 genomes]
rs1985818	0.88[ASN][1000 genomes]
rs1987278	0.94[ASN][1000 genomes]
rs1989298	0.88[ASN][1000 genomes]
rs1989299	0.88[ASN][1000 genomes]
rs2015648	0.96[ASN][1000 genomes]
rs2064219	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076305	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143059	0.86[ASN][1000 genomes]
rs2143060	0.89[ASN][1000 genomes]
rs2143061	0.96[ASN][1000 genomes]
rs2143062	0.93[ASN][1000 genomes]
rs2143063	0.88[ASN][1000 genomes]
rs2179362	0.81[ASN][1000 genomes]
rs2206250	0.96[ASN][1000 genomes]
rs2206251	0.94[ASN][1000 genomes]
rs2206252	0.96[ASN][1000 genomes]
rs2206253	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2206254	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2223463	0.96[ASN][1000 genomes]
rs2223464	0.96[ASN][1000 genomes]
rs2235252	0.81[ASN][1000 genomes]
rs2235254	0.81[ASN][1000 genomes]
rs2393927	0.92[ASN][1000 genomes]
rs2393928	0.96[ASN][1000 genomes]
rs2393929	0.96[ASN][1000 genomes]
rs2393930	0.96[ASN][1000 genomes]
rs2393931	0.96[ASN][1000 genomes]
rs2393932	0.96[ASN][1000 genomes]
rs2893916	0.96[ASN][1000 genomes]
rs34185469	0.97[ASN][1000 genomes]
rs35394453	0.81[ASN][1000 genomes]
rs3734574	0.96[ASN][1000 genomes]
rs3734575	0.96[ASN][1000 genomes]
rs3918438	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4128497	0.87[ASN][1000 genomes]
rs4305708	0.96[ASN][1000 genomes]
rs4339442	0.95[ASN][1000 genomes]
rs4455661	0.96[ASN][1000 genomes]
rs4504471	0.96[ASN][1000 genomes]
rs4562132	0.94[ASN][1000 genomes]
rs4579353	0.96[ASN][1000 genomes]
rs4711147	0.92[ASN][1000 genomes]
rs4711148	0.97[ASN][1000 genomes]
rs4711150	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711151	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713084	0.94[ASN][1000 genomes]
rs4713085	0.94[ASN][1000 genomes]
rs4713086	0.94[ASN][1000 genomes]
rs4713088	0.94[ASN][1000 genomes]
rs4713089	0.94[ASN][1000 genomes]
rs4713090	0.94[ASN][1000 genomes]
rs4713092	0.96[ASN][1000 genomes]
rs4713093	0.90[ASN][1000 genomes]
rs4713094	0.96[ASN][1000 genomes]
rs4713096	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713097	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713101	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55705181	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57125518	0.89[ASN][1000 genomes]
rs57647048	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62401131	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62401133	0.90[ASN][1000 genomes]
rs62401134	0.80[ASN][1000 genomes]
rs6456774	0.92[ASN][1000 genomes]
rs6456775	0.92[ASN][1000 genomes]
rs6456776	0.90[ASN][1000 genomes]
rs6456777	0.96[ASN][1000 genomes]
rs6456778	0.96[ASN][1000 genomes]
rs6456779	0.96[ASN][1000 genomes]
rs6456781	0.94[ASN][1000 genomes]
rs6456784	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6456785	0.97[ASN][1000 genomes]
rs6456786	0.81[ASN][1000 genomes]
rs6456788	0.81[EUR][1000 genomes]
rs6899780	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6900278	0.87[ASN][1000 genomes]
rs6901629	0.92[ASN][1000 genomes]
rs6903254	0.96[ASN][1000 genomes]
rs6904883	0.96[ASN][1000 genomes]
rs6908086	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6908553	0.99[ASN][1000 genomes]
rs6912091	0.94[ASN][1000 genomes]
rs6913122	0.96[ASN][1000 genomes]
rs6914542	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6914585	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6915934	0.96[ASN][1000 genomes]
rs6920362	0.94[ASN][1000 genomes]
rs6923108	0.96[ASN][1000 genomes]
rs6923539	0.96[ASN][1000 genomes]
rs6925606	0.91[ASN][1000 genomes]
rs6926142	0.96[ASN][1000 genomes]
rs6928314	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6929812	0.97[ASN][1000 genomes]
rs6934748	0.96[ASN][1000 genomes]
rs6934933	0.94[ASN][1000 genomes]
rs6934985	0.95[ASN][1000 genomes]
rs6935116	0.95[ASN][1000 genomes]
rs6935118	0.95[ASN][1000 genomes]
rs6936356	0.96[ASN][1000 genomes]
rs6936539	0.96[ASN][1000 genomes]
rs6936951	0.94[ASN][1000 genomes]
rs6938943	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7509	0.81[ASN][1000 genomes]
rs760880	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs766092	0.96[ASN][1000 genomes]
rs7738512	0.92[ASN][1000 genomes]
rs7744110	0.81[ASN][1000 genomes]
rs7747283	0.94[ASN][1000 genomes]
rs7747444	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7754086	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7754411	0.96[ASN][1000 genomes]
rs7754678	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7754977	0.96[ASN][1000 genomes]
rs7759001	0.87[ASN][1000 genomes]
rs7771598	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7772160	0.82[ASN][1000 genomes]
rs9357035	0.85[ASN][1000 genomes]
rs9357037	0.91[ASN][1000 genomes]
rs9368504	0.85[ASN][1000 genomes]
rs9368505	0.86[ASN][1000 genomes]
rs9368508	0.92[ASN][1000 genomes]
rs9461375	0.95[ASN][1000 genomes]
rs9461378	0.96[ASN][1000 genomes]
rs9461379	0.96[ASN][1000 genomes]
rs9461380	0.96[ASN][1000 genomes]
rs9468079	0.92[ASN][1000 genomes]
rs9468100	0.96[ASN][1000 genomes]
rs9468101	0.96[ASN][1000 genomes]
rs9468111	0.95[ASN][1000 genomes]
rs9468112	0.96[ASN][1000 genomes]
rs9468114	0.96[ASN][1000 genomes]
rs9468115	0.96[ASN][1000 genomes]
rs9468117	0.96[ASN][1000 genomes]
rs9468121	0.92[ASN][1000 genomes]
rs979352	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs979353	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs980960	0.96[ASN][1000 genomes]
rs980961	0.97[ASN][1000 genomes]
rs980962	0.97[ASN][1000 genomes]
rs980963	0.97[ASN][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1031803	chr6:27355881-27423655	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv538166	chr6:27355881-27423655	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv5235	chr6:27358498-27404074	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4516940	ZNF391	cis	Esophagus Muscularis	GTEx
rs4516940	ZNF391	cis	Artery Tibial	GTEx
rs4516940	ZNF391	cis	Thyroid	GTEx
rs4516940	ZNF391	cis	lung	GTEx
rs4516940	ZNF391	cis	Esophagus Mucosa	GTEx
rs4516940	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx
rs4516940	ZNF391	cis	Nerve Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27369000-27376600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:27369200-27382000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:27370600-27379800	Weak transcription	Ovary	ovary
4	chr6:27373800-27376400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:27374200-27375400	Enhancers	Fetal Muscle Trunk	muscle
6	chr6:27374200-27375600	Enhancers	Fetal Muscle Leg	muscle

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