Variant report

Variant	rs12197858
Chromosome Location	chr6:27404771-27404772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27403637..27406205-chr6:27438159..27440305,2	K562	blood:
2	chr6:27394116..27396577-chr6:27402117..27405995,3	K562	blood:
3	chr6:27172465..27174162-chr6:27404075..27406458,2	K562	blood:

Extended variants
information (count: 238 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:234)

rs_ID	r²[population]
rs10080555	0.90[ASN][1000 genomes]
rs10080558	0.88[ASN][1000 genomes]
rs10080567	0.90[ASN][1000 genomes]
rs10080569	0.90[ASN][1000 genomes]
rs10080571	0.90[ASN][1000 genomes]
rs10080814	0.90[ASN][1000 genomes]
rs1014227	0.86[ASN][1000 genomes]
rs1022515	0.90[ASN][1000 genomes]
rs1022517	0.90[ASN][1000 genomes]
rs1022518	0.90[ASN][1000 genomes]
rs10484396	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10484397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484398	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10755644	0.83[ASN][1000 genomes]
rs10807020	0.90[ASN][1000 genomes]
rs10807021	0.90[ASN][1000 genomes]
rs10807022	0.90[ASN][1000 genomes]
rs10807023	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807024	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10807025	0.86[ASN][1000 genomes]
rs10946913	0.90[ASN][1000 genomes]
rs10946914	0.90[ASN][1000 genomes]
rs10946916	0.92[ASN][1000 genomes]
rs10946917	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10946918	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10946919	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10946920	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10946921	0.86[ASN][1000 genomes]
rs10946931	0.81[ASN][1000 genomes]
rs11966173	0.90[ASN][1000 genomes]
rs11970336	0.86[ASN][1000 genomes]
rs12195788	0.90[ASN][1000 genomes]
rs12199110	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12200018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205189	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12212288	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12212293	0.95[ASN][1000 genomes]
rs12213598	0.86[ASN][1000 genomes]
rs12215117	0.86[ASN][1000 genomes]
rs12524409	0.86[ASN][1000 genomes]
rs12525255	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12525266	0.94[ASN][1000 genomes]
rs12525544	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12528904	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12529839	0.86[ASN][1000 genomes]
rs12529840	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12662076	0.90[ASN][1000 genomes]
rs13201443	0.86[ASN][1000 genomes]
rs13201965	0.86[ASN][1000 genomes]
rs13201985	0.86[ASN][1000 genomes]
rs13207099	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13215216	0.86[ASN][1000 genomes]
rs13217798	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13220155	0.86[ASN][1000 genomes]
rs1534936	0.89[ASN][1000 genomes]
rs1534937	0.89[ASN][1000 genomes]
rs1569566	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883216	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1883404	0.87[ASN][1000 genomes]
rs1883405	0.87[ASN][1000 genomes]
rs1985818	0.82[ASN][1000 genomes]
rs1987278	0.87[ASN][1000 genomes]
rs1989298	0.82[ASN][1000 genomes]
rs1989299	0.82[ASN][1000 genomes]
rs2015648	0.90[ASN][1000 genomes]
rs2049944	0.86[ASN][1000 genomes]
rs2049945	0.86[ASN][1000 genomes]
rs2064219	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2076305	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2092120	0.82[ASN][1000 genomes]
rs2092121	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2092122	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2103557	0.83[ASN][1000 genomes]
rs2142705	0.86[ASN][1000 genomes]
rs2143060	0.82[ASN][1000 genomes]
rs2143061	0.90[ASN][1000 genomes]
rs2143062	0.86[ASN][1000 genomes]
rs2143063	0.83[ASN][1000 genomes]
rs2179154	0.86[ASN][1000 genomes]
rs2206250	0.90[ASN][1000 genomes]
rs2206251	0.88[ASN][1000 genomes]
rs2206252	0.90[ASN][1000 genomes]
rs2206253	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2206254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223463	0.90[ASN][1000 genomes]
rs2223464	0.90[ASN][1000 genomes]
rs2235252	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2235254	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2272814	0.86[ASN][1000 genomes]
rs2272815	0.84[ASN][1000 genomes]
rs2272816	0.85[ASN][1000 genomes]
rs2393927	0.86[ASN][1000 genomes]
rs2393928	0.90[ASN][1000 genomes]
rs2393929	0.90[ASN][1000 genomes]
rs2393930	0.89[ASN][1000 genomes]
rs2393931	0.90[ASN][1000 genomes]
rs2393932	0.90[ASN][1000 genomes]
rs2893916	0.97[ASN][1000 genomes]
rs2893917	0.86[ASN][1000 genomes]
rs34185469	0.96[ASN][1000 genomes]
rs35394453	0.87[ASN][1000 genomes]
rs3734574	0.90[ASN][1000 genomes]
rs3734575	0.90[ASN][1000 genomes]
rs3918438	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4128497	0.81[ASN][1000 genomes]
rs4305708	0.90[ASN][1000 genomes]
rs4339442	0.88[ASN][1000 genomes]
rs4455661	0.90[ASN][1000 genomes]
rs4504471	0.90[ASN][1000 genomes]
rs4516940	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4562132	0.88[ASN][1000 genomes]
rs4579353	0.90[ASN][1000 genomes]
rs4711147	0.85[ASN][1000 genomes]
rs4711148	0.90[ASN][1000 genomes]
rs4711150	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4711151	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711153	0.86[ASN][1000 genomes]
rs4713084	0.87[ASN][1000 genomes]
rs4713085	0.87[ASN][1000 genomes]
rs4713086	0.87[ASN][1000 genomes]
rs4713088	0.87[ASN][1000 genomes]
rs4713089	0.87[ASN][1000 genomes]
rs4713090	0.87[ASN][1000 genomes]
rs4713092	0.90[ASN][1000 genomes]
rs4713093	0.83[ASN][1000 genomes]
rs4713094	0.90[ASN][1000 genomes]
rs4713096	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713097	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4713101	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713104	0.86[ASN][1000 genomes]
rs4713105	0.86[ASN][1000 genomes]
rs4713106	0.82[ASN][1000 genomes]
rs4713107	0.82[ASN][1000 genomes]
rs55705181	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57125518	0.82[ASN][1000 genomes]
rs57647048	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62401131	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62401133	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62401134	0.80[AMR][1000 genomes]
rs62401365	0.86[ASN][1000 genomes]
rs6456774	0.85[ASN][1000 genomes]
rs6456775	0.86[ASN][1000 genomes]
rs6456776	0.83[ASN][1000 genomes]
rs6456777	0.90[ASN][1000 genomes]
rs6456778	0.90[ASN][1000 genomes]
rs6456779	0.90[ASN][1000 genomes]
rs6456781	0.91[ASN][1000 genomes]
rs6456784	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6456785	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6456786	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6456788	0.82[ASN][1000 genomes]
rs6456789	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6899780	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899950	0.86[ASN][1000 genomes]
rs6900278	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6901629	0.86[ASN][1000 genomes]
rs6903254	0.90[ASN][1000 genomes]
rs6904883	0.90[ASN][1000 genomes]
rs6908086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908553	0.94[ASN][1000 genomes]
rs6912091	0.88[ASN][1000 genomes]
rs6913122	0.90[ASN][1000 genomes]
rs6914542	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915934	0.90[ASN][1000 genomes]
rs6920010	0.86[ASN][1000 genomes]
rs6920362	0.87[ASN][1000 genomes]
rs6920408	0.86[ASN][1000 genomes]
rs6920733	0.86[ASN][1000 genomes]
rs6921071	0.86[ASN][1000 genomes]
rs6923108	0.90[ASN][1000 genomes]
rs6923539	0.90[ASN][1000 genomes]
rs6925606	0.86[ASN][1000 genomes]
rs6926142	0.97[ASN][1000 genomes]
rs6928314	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6929812	0.96[ASN][1000 genomes]
rs6934748	0.89[ASN][1000 genomes]
rs6934933	0.88[ASN][1000 genomes]
rs6934985	0.88[ASN][1000 genomes]
rs6935116	0.88[ASN][1000 genomes]
rs6935118	0.88[ASN][1000 genomes]
rs6936356	0.90[ASN][1000 genomes]
rs6936539	0.90[ASN][1000 genomes]
rs6936951	0.88[ASN][1000 genomes]
rs6938943	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs726830	0.84[ASN][1000 genomes]
rs7509	0.88[ASN][1000 genomes]
rs760880	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764460	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs764461	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs766092	0.90[ASN][1000 genomes]
rs7738512	0.85[ASN][1000 genomes]
rs7741031	0.86[ASN][1000 genomes]
rs7743443	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7743465	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7744110	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7745380	0.86[ASN][1000 genomes]
rs7747283	0.95[ASN][1000 genomes]
rs7747444	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7748366	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7750795	0.86[ASN][1000 genomes]
rs7754086	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7754411	0.90[ASN][1000 genomes]
rs7754678	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7754724	0.86[ASN][1000 genomes]
rs7754977	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7756216	0.86[ASN][1000 genomes]
rs7759001	0.81[ASN][1000 genomes]
rs7764070	0.86[ASN][1000 genomes]
rs7764634	0.82[ASN][1000 genomes]
rs7771598	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7772160	0.89[ASN][1000 genomes]
rs9357037	0.84[ASN][1000 genomes]
rs9368505	0.81[ASN][1000 genomes]
rs9368508	0.85[ASN][1000 genomes]
rs9461375	0.88[ASN][1000 genomes]
rs9461378	0.90[ASN][1000 genomes]
rs9461379	0.90[ASN][1000 genomes]
rs9461380	0.90[ASN][1000 genomes]
rs9468079	0.86[ASN][1000 genomes]
rs9468100	0.90[ASN][1000 genomes]
rs9468101	0.90[ASN][1000 genomes]
rs9468111	0.88[ASN][1000 genomes]
rs9468112	0.90[ASN][1000 genomes]
rs9468114	0.90[ASN][1000 genomes]
rs9468115	0.90[ASN][1000 genomes]
rs9468117	0.90[ASN][1000 genomes]
rs9468121	0.90[ASN][1000 genomes]
rs979352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979353	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980960	0.89[ASN][1000 genomes]
rs980961	0.90[ASN][1000 genomes]
rs980962	0.90[ASN][1000 genomes]
rs980963	0.90[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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12197858	ZNF391	cis	Artery Tibial	GTEx
rs12197858	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx
rs12197858	ZNF391	cis	Nerve Tibial	GTEx
rs12197858	ZNF391	cis	Esophagus Muscularis	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27398400-27407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:27404400-27405600	ZNF genes & repeats	Liver	Liver

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