Variant report

Variant	rs4717323
Chromosome Location	chr7:66303740-66303741
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66302070..66304968-chr7:66306621..66309380,3	MCF-7	breast:

Extended variants
information (count: 218 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:213)

rs_ID	r²[population]
rs10499785	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12531374	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531377	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12531402	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12531516	0.81[AMR][1000 genomes]
rs12531690	0.90[EUR][1000 genomes]
rs12531758	0.92[EUR][1000 genomes]
rs12532147	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532160	0.81[AMR][1000 genomes]
rs12532267	0.92[EUR][1000 genomes]
rs12532650	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532888	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533018	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533830	0.81[AMR][1000 genomes]
rs12533886	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12533958	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533963	0.87[EUR][1000 genomes]
rs12534192	0.84[EUR][1000 genomes]
rs12534391	0.92[EUR][1000 genomes]
rs12534435	0.92[EUR][1000 genomes]
rs12535268	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12535321	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12535363	0.92[EUR][1000 genomes]
rs12535756	0.92[EUR][1000 genomes]
rs12535766	0.92[EUR][1000 genomes]
rs12536130	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12536586	0.92[EUR][1000 genomes]
rs12537346	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12537403	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12537545	0.92[EUR][1000 genomes]
rs12537771	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12537825	0.87[AMR][1000 genomes]
rs12537955	0.81[AMR][1000 genomes]
rs12538126	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12538131	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12539191	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12539366	0.81[AMR][1000 genomes]
rs12539522	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12539848	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12540312	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12540447	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12540536	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12540695	0.81[AMR][1000 genomes]
rs17228728	0.92[EUR][1000 genomes]
rs17229513	0.92[EUR][1000 genomes]
rs17229674	0.92[EUR][1000 genomes]
rs17230057	0.92[EUR][1000 genomes]
rs2091314	0.81[AMR][1000 genomes]
rs2279934	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2279935	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2286682	0.92[EUR][1000 genomes]
rs2286685	0.90[EUR][1000 genomes]
rs2286686	0.92[EUR][1000 genomes]
rs2293351	0.81[AMR][1000 genomes]
rs28431850	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34758320	0.81[AMR][1000 genomes]
rs35279320	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3735152	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3735153	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757420	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3778906	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3778911	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800811	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3800813	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800819	0.81[AMR][1000 genomes]
rs3823608	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4078168	0.92[EUR][1000 genomes]
rs4276561	0.92[EUR][1000 genomes]
rs4717309	0.92[EUR][1000 genomes]
rs4717311	0.92[EUR][1000 genomes]
rs4717312	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4717313	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717314	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717316	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717318	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4717320	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4717324	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4717329	0.81[AMR][1000 genomes]
rs4718381	0.86[EUR][1000 genomes]
rs4718382	0.92[EUR][1000 genomes]
rs4718390	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718391	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718392	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718393	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4718394	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4718395	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718396	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718397	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4718398	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718402	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718407	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718409	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718426	0.81[AMR][1000 genomes]
rs62464646	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62464647	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62464648	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62464651	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62464652	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62464653	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62464654	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62464655	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62464658	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62464659	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465661	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465676	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465678	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465681	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465682	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465688	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465698	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465699	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62465700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465706	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62465707	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62465709	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465710	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465712	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465713	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465714	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465716	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465730	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465734	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62465736	0.81[AMR][1000 genomes]
rs62465738	0.81[AMR][1000 genomes]
rs62465739	0.81[AMR][1000 genomes]
rs62465740	0.81[AMR][1000 genomes]
rs62465741	0.81[AMR][1000 genomes]
rs62465742	0.81[AMR][1000 genomes]
rs62465743	0.81[AMR][1000 genomes]
rs62465744	0.81[AMR][1000 genomes]
rs62465745	0.81[AMR][1000 genomes]
rs62465747	0.81[AMR][1000 genomes]
rs62465748	0.81[AMR][1000 genomes]
rs62465750	0.81[AMR][1000 genomes]
rs62465752	0.81[AMR][1000 genomes]
rs62466081	0.92[EUR][1000 genomes]
rs62466083	0.92[EUR][1000 genomes]
rs62466084	0.92[EUR][1000 genomes]
rs62466085	0.92[EUR][1000 genomes]
rs62466086	0.92[EUR][1000 genomes]
rs62466087	0.92[EUR][1000 genomes]
rs62466090	0.92[EUR][1000 genomes]
rs62466091	0.92[EUR][1000 genomes]
rs62466122	0.92[EUR][1000 genomes]
rs62466123	0.92[EUR][1000 genomes]
rs62466125	0.86[EUR][1000 genomes]
rs62466126	0.92[EUR][1000 genomes]
rs62466127	0.92[EUR][1000 genomes]
rs62466128	0.92[EUR][1000 genomes]
rs62466133	0.92[EUR][1000 genomes]
rs62466134	0.92[EUR][1000 genomes]
rs62466136	0.92[EUR][1000 genomes]
rs62466137	0.92[EUR][1000 genomes]
rs62466138	0.92[EUR][1000 genomes]
rs62466139	0.92[EUR][1000 genomes]
rs62466140	0.80[EUR][1000 genomes]
rs62466141	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466142	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466143	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466144	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466145	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466146	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466147	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466148	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466575	0.81[AMR][1000 genomes]
rs62466582	0.81[AMR][1000 genomes]
rs62466584	0.81[AMR][1000 genomes]
rs62466586	0.81[AMR][1000 genomes]
rs62466588	0.81[AMR][1000 genomes]
rs62466589	0.81[AMR][1000 genomes]
rs62466787	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466788	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62466789	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466792	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466795	0.92[EUR][1000 genomes]
rs62466797	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466798	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466799	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466801	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466802	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466803	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466805	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466806	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466808	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62466847	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466848	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466849	0.82[EUR][1000 genomes]
rs62466850	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466851	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466852	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466855	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466856	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62466857	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466858	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62466859	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62468260	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62468261	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62468262	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62468263	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62469060	0.92[EUR][1000 genomes]
rs62469061	0.92[EUR][1000 genomes]
rs62469062	0.92[EUR][1000 genomes]
rs62469064	0.92[EUR][1000 genomes]
rs62469066	0.92[EUR][1000 genomes]
rs62469067	0.92[EUR][1000 genomes]
rs62469069	0.92[EUR][1000 genomes]
rs62469070	0.92[EUR][1000 genomes]
rs62469072	0.90[EUR][1000 genomes]
rs7781008	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9801144	0.82[EUR][1000 genomes]
rs9801269	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3432664	chr7:66291892-66307249	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3444223	chr7:66303317-66305265	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4717323	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66297600-66309000	Weak transcription	Right Atrium	heart

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