Variant report

Variant	rs12532650
Chromosome Location	chr7:66301953-66301954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:66301933-66302393	A549	lung:	n/a	chr7:66302157-66302173 chr7:66302161-66302171 chr7:66302149-66302170 chr7:66302159-66302172 chr7:66302154-66302172 chr7:66302158-66302179 chr7:66302159-66302168 chr7:66302156-66302169 chr7:66302156-66302174
2	CTCF	chr7:66301934-66302323	K562	blood:	n/a	chr7:66302157-66302173 chr7:66302161-66302171 chr7:66302149-66302170 chr7:66302159-66302172 chr7:66302154-66302172 chr7:66302158-66302179 chr7:66302159-66302168 chr7:66302156-66302169 chr7:66302156-66302174
3	RAD21	chr7:66301908-66302377	HepG2	liver:	n/a	chr7:66302158-66302172 chr7:66302162-66302174 chr7:66302158-66302167 chr7:66302156-66302170 chr7:66302152-66302171 chr7:66302162-66302172 chr7:66302157-66302176 chr7:66302160-66302173
4	CBX3	chr7:66301756-66302488	K562	blood:	n/a	n/a
5	CTCF	chr7:66301940-66302090	NHEK	skin:	n/a	n/a
6	CTCF	chr7:66301920-66302070	AG04450	lung:	n/a	n/a
7	CTCF	chr7:66301912-66302356	K562	blood:	n/a	chr7:66302157-66302173 chr7:66302161-66302171 chr7:66302149-66302170 chr7:66302159-66302172 chr7:66302154-66302172 chr7:66302158-66302179 chr7:66302159-66302168 chr7:66302156-66302169 chr7:66302156-66302174
8	CBX3	chr7:66301835-66302325	K562	blood:	n/a	n/a
9	KAP1	chr7:66301867-66302244	K562	blood:	n/a	n/a
10	RAD21	chr7:66301897-66302388	ECC-1	luminal epithelium:	n/a	chr7:66302158-66302172 chr7:66302162-66302174 chr7:66302158-66302167 chr7:66302156-66302170 chr7:66302152-66302171 chr7:66302162-66302172 chr7:66302157-66302176 chr7:66302160-66302173
11	CTCF	chr7:66301862-66302495	A549	lung:	n/a	chr7:66302157-66302173 chr7:66302161-66302171 chr7:66302149-66302170 chr7:66302159-66302172 chr7:66302154-66302172 chr7:66302158-66302179 chr7:66302159-66302168 chr7:66302156-66302169 chr7:66302156-66302174
12	CTCF	chr7:66301922-66302343	H1-hESC	embryonic stem cell:	n/a	chr7:66302157-66302173 chr7:66302161-66302171 chr7:66302149-66302170 chr7:66302159-66302172 chr7:66302154-66302172 chr7:66302158-66302179 chr7:66302159-66302168 chr7:66302156-66302169 chr7:66302156-66302174

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66301720..66302584-chr7:66359647..66360430,2	MCF-7	breast:
2	chr7:66301118..66302840-chr7:66307414..66309903,3	MCF-7	breast:

Variant related genes	Relation type
GTF2IRD1P1	TF binding region
ENSG00000230583	Chromatin interaction

Extended variants
information (count: 208 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:203)

rs_ID	r²[population]
rs10499785	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531374	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531377	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531402	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12531516	0.81[AMR][1000 genomes]
rs12531758	0.81[EUR][1000 genomes]
rs12532147	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12532160	0.81[AMR][1000 genomes]
rs12532267	0.81[EUR][1000 genomes]
rs12532888	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12533018	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533830	0.81[AMR][1000 genomes]
rs12533886	0.84[ASN][1000 genomes]
rs12533958	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12534391	0.81[EUR][1000 genomes]
rs12534435	0.81[EUR][1000 genomes]
rs12535268	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12535321	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12535363	0.81[EUR][1000 genomes]
rs12535756	0.81[EUR][1000 genomes]
rs12535766	0.81[EUR][1000 genomes]
rs12536130	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12536586	0.81[EUR][1000 genomes]
rs12537346	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537403	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537545	0.81[EUR][1000 genomes]
rs12537771	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537825	0.87[AMR][1000 genomes]
rs12537955	0.81[AMR][1000 genomes]
rs12538126	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12538131	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539191	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539366	0.81[AMR][1000 genomes]
rs12539522	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539848	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540312	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12540447	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12540536	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12540695	0.81[AMR][1000 genomes]
rs17228728	0.81[EUR][1000 genomes]
rs17229513	0.81[EUR][1000 genomes]
rs17229674	0.81[EUR][1000 genomes]
rs17230057	0.81[EUR][1000 genomes]
rs2091314	0.81[AMR][1000 genomes]
rs2279934	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2279935	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2286682	0.81[EUR][1000 genomes]
rs2286686	0.81[EUR][1000 genomes]
rs2293351	0.81[AMR][1000 genomes]
rs28431850	0.84[ASN][1000 genomes]
rs34758320	0.81[AMR][1000 genomes]
rs35279320	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735152	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3735153	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3757420	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3778906	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3778911	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800811	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3800813	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800819	0.81[AMR][1000 genomes]
rs3823608	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4078168	0.81[EUR][1000 genomes]
rs4276561	0.81[EUR][1000 genomes]
rs4717309	0.81[EUR][1000 genomes]
rs4717311	0.81[EUR][1000 genomes]
rs4717312	0.81[EUR][1000 genomes]
rs4717313	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4717314	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4717316	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4717318	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4717320	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4717323	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4717324	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4717329	0.81[AMR][1000 genomes]
rs4718382	0.81[EUR][1000 genomes]
rs4718390	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718391	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718392	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718393	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4718394	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4718395	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718396	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718397	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4718398	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718402	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718407	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718409	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718426	0.81[AMR][1000 genomes]
rs62464646	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62464647	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62464648	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62464651	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62464652	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62464653	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62464654	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62464655	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62464658	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62464659	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465661	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465676	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465678	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465681	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465682	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465688	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465698	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465699	0.93[AMR][1000 genomes]
rs62465700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62465706	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62465707	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465709	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62465710	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62465712	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62465713	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62465714	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62465716	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62465730	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62465734	0.81[AMR][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	0.81[EUR][1000 genomes]
rs62466083	0.81[EUR][1000 genomes]
rs62466084	0.81[EUR][1000 genomes]
rs62466085	0.81[EUR][1000 genomes]
rs62466086	0.81[EUR][1000 genomes]
rs62466087	0.81[EUR][1000 genomes]
rs62466090	0.81[EUR][1000 genomes]
rs62466091	0.81[EUR][1000 genomes]
rs62466122	0.81[EUR][1000 genomes]
rs62466123	0.81[EUR][1000 genomes]
rs62466126	0.81[EUR][1000 genomes]
rs62466127	0.81[EUR][1000 genomes]
rs62466128	0.81[EUR][1000 genomes]
rs62466133	0.81[EUR][1000 genomes]
rs62466134	0.81[EUR][1000 genomes]
rs62466136	0.81[EUR][1000 genomes]
rs62466137	0.81[EUR][1000 genomes]
rs62466138	0.81[EUR][1000 genomes]
rs62466139	0.81[EUR][1000 genomes]
rs62466141	0.84[ASN][1000 genomes]
rs62466142	0.84[ASN][1000 genomes]
rs62466143	0.84[ASN][1000 genomes]
rs62466144	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466145	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466146	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466147	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466148	0.81[EUR][1000 genomes];0.84[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	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466788	0.81[EUR][1000 genomes]
rs62466789	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466792	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466795	0.81[EUR][1000 genomes]
rs62466797	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466798	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466799	0.84[ASN][1000 genomes]
rs62466801	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466802	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466803	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466805	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466806	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466808	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62466847	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466848	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466850	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466851	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466852	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466855	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466856	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62466857	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466858	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466859	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62468260	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62468261	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468262	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468263	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62469060	0.81[EUR][1000 genomes]
rs62469061	0.81[EUR][1000 genomes]
rs62469062	0.81[EUR][1000 genomes]
rs62469064	0.81[EUR][1000 genomes]
rs62469066	0.81[EUR][1000 genomes]
rs62469067	0.81[EUR][1000 genomes]
rs62469069	0.81[EUR][1000 genomes]
rs62469070	0.81[EUR][1000 genomes]
rs7781008	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9801269	0.80[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	esv1003570	chr7:66298899-66302713	Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12532650	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66297600-66309000	Weak transcription	Right Atrium	heart
2	chr7:66301600-66302800	Active TSS	Spleen	Spleen

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