Variant report

Variant	rs6928314
Chromosome Location	chr6:27390993-27390994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27389481..27391998-chr6:27409744..27412634,3	K562	blood:
2	chr6:27279249..27281645-chr6:27389545..27391578,2	K562	blood:

Variant related genes	Relation type
ENSG00000158553	Chromatin interaction

Extended variants
information (count: 233 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:229)

rs_ID	r²[population]
rs10080555	0.94[ASN][1000 genomes]
rs10080558	0.92[ASN][1000 genomes]
rs10080567	0.94[ASN][1000 genomes]
rs10080569	0.94[ASN][1000 genomes]
rs10080571	0.94[ASN][1000 genomes]
rs10080814	0.94[ASN][1000 genomes]
rs1014227	0.82[ASN][1000 genomes]
rs1022515	0.94[ASN][1000 genomes]
rs1022517	0.94[ASN][1000 genomes]
rs1022518	0.94[ASN][1000 genomes]
rs10484396	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10484397	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10484398	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10755644	0.87[ASN][1000 genomes]
rs10807020	0.94[ASN][1000 genomes]
rs10807021	0.94[ASN][1000 genomes]
rs10807022	0.94[ASN][1000 genomes]
rs10807023	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10807024	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10807025	0.82[ASN][1000 genomes]
rs10946913	0.94[ASN][1000 genomes]
rs10946914	0.94[ASN][1000 genomes]
rs10946916	0.96[ASN][1000 genomes]
rs10946917	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10946918	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10946919	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10946920	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10946921	0.82[ASN][1000 genomes]
rs11966173	0.94[ASN][1000 genomes]
rs11970336	0.82[ASN][1000 genomes]
rs12195788	0.94[ASN][1000 genomes]
rs12197858	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12199110	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12200018	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12205189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212293	0.96[ASN][1000 genomes]
rs12213598	0.82[ASN][1000 genomes]
rs12215117	0.82[ASN][1000 genomes]
rs12524409	0.82[ASN][1000 genomes]
rs12525255	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12525266	0.98[ASN][1000 genomes]
rs12525544	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12528904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529839	0.82[ASN][1000 genomes]
rs12529840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12662076	0.94[ASN][1000 genomes]
rs13201443	0.82[ASN][1000 genomes]
rs13201965	0.82[ASN][1000 genomes]
rs13201985	0.82[ASN][1000 genomes]
rs13207099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13215216	0.90[ASN][1000 genomes]
rs13217798	0.99[ASN][1000 genomes]
rs13220155	0.82[ASN][1000 genomes]
rs1534936	0.93[ASN][1000 genomes]
rs1534937	0.93[ASN][1000 genomes]
rs1569566	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1883216	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1883402	0.81[ASN][1000 genomes]
rs1883404	0.91[ASN][1000 genomes]
rs1883405	0.91[ASN][1000 genomes]
rs1985818	0.86[ASN][1000 genomes]
rs1987278	0.91[ASN][1000 genomes]
rs1989298	0.86[ASN][1000 genomes]
rs1989299	0.86[ASN][1000 genomes]
rs2015648	0.94[ASN][1000 genomes]
rs2049944	0.82[ASN][1000 genomes]
rs2049945	0.82[ASN][1000 genomes]
rs2064219	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2076305	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2092121	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2092122	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2142705	0.82[ASN][1000 genomes]
rs2143059	0.83[ASN][1000 genomes]
rs2143060	0.86[ASN][1000 genomes]
rs2143061	0.94[ASN][1000 genomes]
rs2143062	0.90[ASN][1000 genomes]
rs2143063	0.87[ASN][1000 genomes]
rs2179154	0.82[ASN][1000 genomes]
rs2206250	0.94[ASN][1000 genomes]
rs2206251	0.92[ASN][1000 genomes]
rs2206252	0.94[ASN][1000 genomes]
rs2206253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2206254	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2223463	0.94[ASN][1000 genomes]
rs2223464	0.94[ASN][1000 genomes]
rs2235252	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2235254	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2272814	0.82[ASN][1000 genomes]
rs2272816	0.81[ASN][1000 genomes]
rs2393927	0.90[ASN][1000 genomes]
rs2393928	0.94[ASN][1000 genomes]
rs2393929	0.94[ASN][1000 genomes]
rs2393930	0.93[ASN][1000 genomes]
rs2393931	0.94[ASN][1000 genomes]
rs2393932	0.94[ASN][1000 genomes]
rs2893916	0.99[ASN][1000 genomes]
rs2893917	0.82[ASN][1000 genomes]
rs34185469	1.00[ASN][1000 genomes]
rs35394453	0.83[ASN][1000 genomes]
rs3734574	0.94[ASN][1000 genomes]
rs3734575	0.94[ASN][1000 genomes]
rs3918438	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4128497	0.85[ASN][1000 genomes]
rs4305708	0.94[ASN][1000 genomes]
rs4339442	0.92[ASN][1000 genomes]
rs4455661	0.94[ASN][1000 genomes]
rs4504471	0.94[ASN][1000 genomes]
rs4516940	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4562132	0.92[ASN][1000 genomes]
rs4579353	0.94[ASN][1000 genomes]
rs4711147	0.89[ASN][1000 genomes]
rs4711148	0.94[ASN][1000 genomes]
rs4711150	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4711151	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711153	0.82[ASN][1000 genomes]
rs4713084	0.91[ASN][1000 genomes]
rs4713085	0.91[ASN][1000 genomes]
rs4713086	0.91[ASN][1000 genomes]
rs4713088	0.91[ASN][1000 genomes]
rs4713089	0.91[ASN][1000 genomes]
rs4713090	0.91[ASN][1000 genomes]
rs4713092	0.94[ASN][1000 genomes]
rs4713093	0.87[ASN][1000 genomes]
rs4713094	0.94[ASN][1000 genomes]
rs4713096	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713097	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713101	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713104	0.82[ASN][1000 genomes]
rs4713105	0.82[ASN][1000 genomes]
rs55705181	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57125518	0.86[ASN][1000 genomes]
rs57647048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62401131	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62401133	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62401134	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62401365	0.82[ASN][1000 genomes]
rs6456774	0.89[ASN][1000 genomes]
rs6456775	0.90[ASN][1000 genomes]
rs6456776	0.87[ASN][1000 genomes]
rs6456777	0.94[ASN][1000 genomes]
rs6456778	0.94[ASN][1000 genomes]
rs6456779	0.94[ASN][1000 genomes]
rs6456781	0.95[ASN][1000 genomes]
rs6456784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456785	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6456786	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6456789	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6899780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6899950	0.82[ASN][1000 genomes]
rs6900278	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6901629	0.90[ASN][1000 genomes]
rs6903254	0.94[ASN][1000 genomes]
rs6904883	0.94[ASN][1000 genomes]
rs6908086	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6908553	0.98[ASN][1000 genomes]
rs6912091	0.92[ASN][1000 genomes]
rs6913122	0.94[ASN][1000 genomes]
rs6914542	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6914585	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6915934	0.94[ASN][1000 genomes]
rs6920010	0.82[ASN][1000 genomes]
rs6920362	0.91[ASN][1000 genomes]
rs6920408	0.82[ASN][1000 genomes]
rs6920733	0.82[ASN][1000 genomes]
rs6921071	0.82[ASN][1000 genomes]
rs6923108	0.94[ASN][1000 genomes]
rs6923539	0.94[ASN][1000 genomes]
rs6925606	0.90[ASN][1000 genomes]
rs6926142	0.99[ASN][1000 genomes]
rs6929812	1.00[ASN][1000 genomes]
rs6934748	0.93[ASN][1000 genomes]
rs6934933	0.92[ASN][1000 genomes]
rs6934985	0.92[ASN][1000 genomes]
rs6935116	0.92[ASN][1000 genomes]
rs6935118	0.92[ASN][1000 genomes]
rs6936356	0.94[ASN][1000 genomes]
rs6936539	0.94[ASN][1000 genomes]
rs6936951	0.92[ASN][1000 genomes]
rs6938943	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7509	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs760880	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs764460	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs764461	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs766092	0.94[ASN][1000 genomes]
rs7738512	0.89[ASN][1000 genomes]
rs7741031	0.82[ASN][1000 genomes]
rs7743443	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7743465	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7744110	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7745380	0.82[ASN][1000 genomes]
rs7747283	0.96[ASN][1000 genomes]
rs7747444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7748366	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7750795	0.82[ASN][1000 genomes]
rs7754086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754411	0.94[ASN][1000 genomes]
rs7754678	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7754724	0.82[ASN][1000 genomes]
rs7754977	0.99[ASN][1000 genomes]
rs7756216	0.82[ASN][1000 genomes]
rs7759001	0.84[ASN][1000 genomes]
rs7764070	0.82[ASN][1000 genomes]
rs7771598	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772160	0.85[ASN][1000 genomes]
rs9357035	0.83[ASN][1000 genomes]
rs9357037	0.88[ASN][1000 genomes]
rs9368504	0.82[ASN][1000 genomes]
rs9368505	0.84[ASN][1000 genomes]
rs9368508	0.89[ASN][1000 genomes]
rs9461375	0.92[ASN][1000 genomes]
rs9461378	0.94[ASN][1000 genomes]
rs9461379	0.94[ASN][1000 genomes]
rs9461380	0.94[ASN][1000 genomes]
rs9468079	0.90[ASN][1000 genomes]
rs9468100	0.94[ASN][1000 genomes]
rs9468101	0.94[ASN][1000 genomes]
rs9468111	0.92[ASN][1000 genomes]
rs9468112	0.94[ASN][1000 genomes]
rs9468114	0.94[ASN][1000 genomes]
rs9468115	0.94[ASN][1000 genomes]
rs9468117	0.94[ASN][1000 genomes]
rs9468121	0.94[ASN][1000 genomes]
rs979352	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs979353	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs980960	0.93[ASN][1000 genomes]
rs980961	0.94[ASN][1000 genomes]
rs980962	0.94[ASN][1000 genomes]
rs980963	0.94[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6928314	ZNF391	cis	Nerve Tibial	GTEx
rs6928314	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx
rs6928314	ZNF391	cis	Artery Tibial	GTEx
rs6928314	ZNF391	cis	Heart Left Ventricle	GTEx
rs6928314	ZNF391	cis	Esophagus Muscularis	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27390400-27391000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:27390400-27391000	Active TSS	Ovary	ovary
3	chr6:27390400-27391200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:27390400-27391200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:27390400-27391200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:27390600-27391000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:27390600-27391000	Active TSS	Brain Angular Gyrus	brain
8	chr6:27390600-27391000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr6:27390600-27391200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:27390600-27391200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:27390600-27391200	Active TSS	Brain Anterior Caudate	brain
12	chr6:27390600-27391200	Bivalent/Poised TSS	Fetal Brain Male	brain
13	chr6:27390600-27391200	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr6:27390600-27391200	Active TSS	Fetal Kidney	kidney
15	chr6:27390800-27391200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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