Variant report

Variant	rs9452122
Chromosome Location	chr6:93520706-93520707
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	TCF7L2	chr6:93520579-93520998	PANC-1	pancreas:	n/a	chr6:93520778-93520785 chr6:93520824-93520838 chr6:93520824-93520840 chr6:93520701-93520711 chr6:93520827-93520836 chr6:93520829-93520836 chr6:93520828-93520837 chr6:93520907-93520921 chr6:93520824-93520840 chr6:93520778-93520788
2	CTCF	chr6:93520671-93520871	MCF-7	breast:	n/a	n/a
3	CTCF	chr6:93520680-93520830	Caco-2	colon:	n/a	n/a
4	CTCF	chr6:93520660-93520810	GM12878	blood:	n/a	n/a
5	SMC3	chr6:93520572-93520933	HepG2	liver:	n/a	chr6:93520750-93520760
6	CTCF	chr6:93520620-93520770	NHLF	lung:	n/a	n/a
7	TCF12	chr6:93520665-93520888	GM12878	blood:	n/a	n/a
8	CTCF	chr6:93520700-93520850	RPTEC	kidney:	n/a	n/a
9	CTCF	chr6:93520680-93520830	GM12871	blood:	n/a	n/a
10	CTCF	chr6:93520653-93520882	Gliobla	brain:	n/a	n/a
11	CTCF	chr6:93520700-93520850	BE2_C	brain:	n/a	n/a
12	CTCF	chr6:93520490-93520971	MCF-7	breast:	n/a	chr6:93520886-93520899
13	CTCF	chr6:93520640-93520790	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr6:93520670-93520817	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr6:93520633-93520884	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr6:93520573-93520952	Hela-S3	cervix:	n/a	chr6:93520579-93520588
17	CTCF	chr6:93520660-93520810	HCM	heart:	n/a	n/a
18	CTCF	chr6:93520625-93520865	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr6:93520684-93520875	GM12891	blood:	n/a	n/a
20	ATF2	chr6:93520527-93520984	GM12878	blood:	n/a	n/a
21	CTCF	chr6:93520660-93520810	Caco-2	colon:	n/a	n/a
22	CTCF	chr6:93520620-93520770	NHEK	skin:	n/a	n/a
23	CTCF	chr6:93520660-93520810	GM12874	blood:	n/a	n/a
24	CTCF	chr6:93520626-93520904	MCF-7	breast:	n/a	chr6:93520886-93520899
25	CTCF	chr6:93520503-93521074	MCF-7	breast:	n/a	chr6:93520886-93520899
26	CTCF	chr6:93520680-93520830	GM12874	blood:	n/a	n/a
27	CTCF	chr6:93520700-93520850	WERI-Rb-1	eye:	n/a	n/a
28	RAD21	chr6:93520512-93521047	ECC-1	luminal epithelium:	n/a	chr6:93520579-93520588
29	CTCF	chr6:93520657-93520830	K562	blood:	n/a	n/a
30	CTCF	chr6:93520680-93520830	HRE	kidney:	n/a	n/a
31	CTCF	chr6:93520648-93520886	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:93520640-93520790	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr6:93520680-93520830	HPF	lung:	n/a	n/a
34	CTCF	chr6:93520640-93520790	GM12872	blood:	n/a	n/a
35	YY1	chr6:93520646-93520976	H1-hESC	embryonic stem cell:	n/a	n/a
36	NANOG	chr6:93520632-93520866	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr6:93520515-93520961	H1-hESC	embryonic stem cell:	n/a	chr6:93520579-93520588
38	CTCF	chr6:93520680-93520830	NHEK	skin:	n/a	n/a
39	PAX5	chr6:93520655-93520892	GM12878	blood:	n/a	n/a
40	RAD21	chr6:93520399-93521098	SK-N-SH	brain:	n/a	chr6:93520579-93520588
41	FOXA1	chr6:93520645-93521013	HepG2	liver:	n/a	n/a
42	CTCF	chr6:93520680-93520830	GM12868	blood:	n/a	n/a
43	SMC3	chr6:93520387-93521091	SK-N-SH	brain:	n/a	chr6:93520750-93520760
44	CTCF	chr6:93520700-93520850	GM12872	blood:	n/a	n/a
45	CTCF	chr6:93520700-93520850	HCT-116	colon:	n/a	n/a
46	CTCF	chr6:93520640-93520790	NB4	blood:	n/a	n/a
47	RUNX3	chr6:93520601-93521007	GM12878	blood:	n/a	n/a
48	CTCF	chr6:93520639-93520817	SK-N-SH_RA	brain:	n/a	n/a
49	PAX5	chr6:93520526-93521087	GM12878	blood:	n/a	n/a
50	CTCF	chr6:93520680-93520830	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:93520687..93521206-chr6:93726686..93727450,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238412	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10440807	1.00[EUR][1000 genomes]
rs9294539	1.00[EUR][1000 genomes]
rs9452178	1.00[EUR][1000 genomes]
rs9452179	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886355	chr6:93166766-93530757	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1018402	chr6:93173579-93855804	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1031496	chr6:93365937-93715883	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv428150	chr6:93409468-93587278	Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1017311	chr6:93432753-93559750	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv463960	chr6:93512325-93570432	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv604149	chr6:93512325-93570432	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93520400-93521000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:93520400-93521200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:93520400-93521800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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