Variant report

Variant	rs7754724
Chromosome Location	chr6:27450797-27450798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27264044..27265873-chr6:27450054..27451666,2	MCF-7	breast:
2	chr6:27449659..27451510-chr6:27459264..27461160,2	K562	blood:
3	chr6:27436780..27444180-chr6:27444326..27451609,21	K562	blood:
4	chr6:27445490..27447467-chr6:27449850..27451759,2	K562	blood:
5	chr6:27445490..27447223-chr6:27448748..27451759,4	K562	blood:

Variant related genes	Relation type
ENSG00000096654	Chromatin interaction

Extended variants
information (count: 194 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:191)

rs_ID	r²[population]
rs1014227	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1022515	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10452601	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10484396	0.83[ASN][1000 genomes]
rs10484397	0.86[ASN][1000 genomes]
rs10484398	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10755644	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10807020	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10807021	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10807023	0.86[ASN][1000 genomes]
rs10807024	0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10807025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10946913	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10946914	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10946919	0.96[ASN][1000 genomes]
rs10946920	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10946921	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10946931	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10946932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs10946933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11968825	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11970336	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12197858	0.86[ASN][1000 genomes]
rs12199110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12200018	0.86[ASN][1000 genomes]
rs12205189	0.82[ASN][1000 genomes]
rs12206045	0.90[ASN][1000 genomes]
rs12212288	0.82[ASN][1000 genomes]
rs12212293	0.84[ASN][1000 genomes]
rs12213598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12215117	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12524409	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12525544	0.82[ASN][1000 genomes]
rs12528904	0.82[ASN][1000 genomes]
rs12529839	0.99[ASN][1000 genomes]
rs12529840	0.83[ASN][1000 genomes]
rs12662076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs13201443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13201965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13201985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13207099	0.82[ASN][1000 genomes]
rs13212050	0.92[ASN][1000 genomes]
rs13215560	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13217162	0.92[ASN][1000 genomes]
rs13217248	0.92[ASN][1000 genomes]
rs13217798	0.82[ASN][1000 genomes]
rs13220155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1534937	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1569566	0.86[ASN][1000 genomes]
rs1883216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1883404	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1883405	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1985818	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2015648	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2049944	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2049945	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2064219	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2076305	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2092120	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2092121	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2092122	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2103557	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2142705	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2143062	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2179154	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2205831	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2206250	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2206251	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2206252	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2206253	0.83[ASN][1000 genomes]
rs2206254	0.86[ASN][1000 genomes]
rs2223463	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2223464	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2235252	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2235254	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2272814	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2272815	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2272816	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2294308	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294309	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2393929	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2393931	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2893916	0.83[ASN][1000 genomes]
rs2893917	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34185469	0.82[ASN][1000 genomes]
rs35394453	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3734574	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs3734575	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4305708	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4358616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4455661	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4478400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[ASN][1000 genomes]
rs4504471	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4711147	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4711148	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4711151	0.81[ASN][1000 genomes]
rs4711153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4713086	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4713092	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4713101	0.82[ASN][1000 genomes]
rs4713104	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4713105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713106	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4713107	0.95[ASN][1000 genomes]
rs4713109	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55705181	0.84[ASN][1000 genomes]
rs57647048	0.86[ASN][1000 genomes]
rs62401365	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6456774	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6456777	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6456778	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6456781	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6456784	0.82[ASN][1000 genomes]
rs6456785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs6456786	0.99[ASN][1000 genomes]
rs6456788	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6456789	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6456791	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6650992	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6899780	0.86[ASN][1000 genomes]
rs6899950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903282	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6904844	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6904883	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6908086	0.86[ASN][1000 genomes]
rs6911865	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6914542	0.86[ASN][1000 genomes]
rs6914585	0.86[ASN][1000 genomes]
rs6915934	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6918131	0.91[ASN][1000 genomes]
rs6918794	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6920010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6920362	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6920408	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6920733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6921071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6923108	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6923539	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs6926142	0.83[ASN][1000 genomes]
rs6928314	0.82[ASN][1000 genomes]
rs6929812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6931659	0.88[ASN][1000 genomes]
rs6933354	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6934748	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6934985	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6936356	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6936539	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6938943	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs726830	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7509	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs760880	0.86[ASN][1000 genomes]
rs764460	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs764461	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs766092	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7741031	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7743443	1.00[ASN][1000 genomes]
rs7743465	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7744110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7745380	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7747283	0.84[ASN][1000 genomes]
rs7747444	0.83[ASN][1000 genomes]
rs7748366	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7750795	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7754086	0.82[ASN][1000 genomes]
rs7754411	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7754678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[ASN][1000 genomes]
rs7754977	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7756216	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7756377	0.92[ASN][1000 genomes]
rs7759001	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7761989	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7764070	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7764634	0.95[ASN][1000 genomes]
rs7771590	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7771598	0.82[ASN][1000 genomes]
rs7772160	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7774613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[ASN][1000 genomes]
rs7776338	0.91[ASN][1000 genomes]
rs9357037	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs9461380	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9468101	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9468111	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9468115	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9468117	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9468140	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9468141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs979352	0.86[ASN][1000 genomes]
rs979353	0.86[ASN][1000 genomes]
rs980960	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs980961	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs980962	1.00[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv883508	chr6:27434220-27455625	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7754724	ZNF391	cis	lung	GTEx
rs7754724	ZNF391	cis	Esophagus Muscularis	GTEx
rs7754724	ZNF391	cis	Artery Tibial	GTEx
rs7754724	ZNF391	cis	Heart Left Ventricle	GTEx
rs7754724	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27448000-27450800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:27448000-27451200	Weak transcription	Psoas Muscle	Psoas
3	chr6:27448000-27451400	Weak transcription	HepG2	liver

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