Variant report

Variant	rs67526027
Chromosome Location	chr6:5068711-5068712
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	JUN	chr6:5068356-5068944	HepG2	liver:	n/a	chr6:5068750-5068763 chr6:5068754-5068763
2	RXRA	chr6:5068134-5068873	HepG2	liver:	n/a	chr6:5068507-5068521
3	MXI1	chr6:5068222-5068937	HepG2	liver:	n/a	n/a
4	MYBL2	chr6:5068025-5069078	HepG2	liver:	n/a	n/a
5	MAZ	chr6:5068329-5068845	HepG2	liver:	n/a	n/a
6	JUND	chr6:5068288-5068924	HepG2	liver:	n/a	chr6:5068754-5068763
7	MYC	chr6:5068413-5068791	HepG2	liver:	n/a	n/a
8	REST	chr6:5068203-5068919	HepG2	liver:	n/a	n/a
9	SMC3	chr6:5068121-5068904	HepG2	liver:	n/a	n/a
10	ZBTB7A	chr6:5068367-5068936	HepG2	liver:	n/a	n/a
11	HNF4A	chr6:5068266-5068910	HepG2	liver:	n/a	chr6:5068451-5068466
12	HNF4G	chr6:5068203-5068900	HepG2	liver:	n/a	chr6:5068451-5068466
13	EP300	chr6:5068272-5069002	HepG2	liver:	n/a	chr6:5068514-5068524 chr6:5068295-5068309
14	RAD21	chr6:5068267-5068881	HepG2	liver:	n/a	n/a
15	FOSL2	chr6:5068248-5068993	HepG2	liver:	n/a	chr6:5068754-5068763
16	ELF1	chr6:5068266-5068917	HepG2	liver:	n/a	n/a
17	RAD21	chr6:5068318-5068794	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:5068564-5068972	HepG2	liver:	n/a	n/a
19	FOXA1	chr6:5068057-5069046	HepG2	liver:	n/a	n/a
20	MBD4	chr6:5068060-5069059	HepG2	liver:	n/a	n/a
21	HNF4A	chr6:5068194-5068899	HepG2	liver:	n/a	chr6:5068451-5068466
22	CEBPB	chr6:5068292-5068755	HepG2	liver:	n/a	n/a
23	MAX	chr6:5067495-5069151	HepG2	liver:	n/a	chr6:5068871-5068879
24	EP300	chr6:5068153-5068948	HepG2	liver:	n/a	chr6:5068514-5068524 chr6:5068295-5068309
25	NFIC	chr6:5068038-5069019	HepG2	liver:	n/a	chr6:5068673-5068701
26	FOXA1	chr6:5068086-5068971	HepG2	liver:	n/a	n/a
27	EP300	chr6:5068261-5068903	HepG2	liver:	n/a	chr6:5068514-5068524 chr6:5068295-5068309
28	MAFF	chr6:5068305-5068834	HepG2	liver:	n/a	n/a
29	HDAC2	chr6:5068178-5068989	HepG2	liver:	n/a	chr6:5068630-5068649 chr6:5068295-5068309 chr6:5068515-5068524
30	MAFK	chr6:5068203-5068850	HepG2	liver:	n/a	n/a
31	FOXA2	chr6:5067657-5069164	HepG2	liver:	n/a	n/a
32	MAX	chr6:5068199-5069069	HepG2	liver:	n/a	chr6:5068871-5068879
33	CREB1	chr6:5068134-5069127	HepG2	liver:	n/a	chr6:5068752-5068765
34	BHLHE40	chr6:5068350-5068896	HepG2	liver:	n/a	chr6:5068537-5068553
35	MAFK	chr6:5068282-5068836	HepG2	liver:	n/a	n/a
36	CEBPD	chr6:5068332-5068958	HepG2	liver:	n/a	n/a
37	FOXA2	chr6:5068205-5068942	HepG2	liver:	n/a	n/a
38	NFIC	chr6:5068111-5068980	HepG2	liver:	n/a	chr6:5068673-5068701
39	TBP	chr6:5068250-5068843	HepG2	liver:	n/a	n/a
40	RFX5	chr6:5068388-5068923	HepG2	liver:	n/a	n/a
41	JUND	chr6:5068298-5068875	HepG2	liver:	n/a	chr6:5068754-5068763
42	TCF12	chr6:5068291-5068947	HepG2	liver:	n/a	chr6:5068393-5068402
43	CHD2	chr6:5068338-5068924	HepG2	liver:	n/a	n/a
44	HEY1	chr6:5068264-5069047	HepG2	liver:	n/a	chr6:5068753-5068762 chr6:5068755-5068764
45	TEAD4	chr6:5068121-5069019	HepG2	liver:	n/a	n/a
46	YY1	chr6:5068287-5068888	HepG2	liver:	n/a	chr6:5068597-5068608 chr6:5068520-5068529
47	RXRA	chr6:5068222-5068944	HepG2	liver:	n/a	chr6:5068507-5068521
48	RAD21	chr6:5068279-5068831	HepG2	liver:	n/a	n/a
49	ELF1	chr6:5068318-5068898	HepG2	liver:	n/a	n/a
50	SP1	chr6:5068136-5069026	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:5068684-5068734	AG04449	skin:	fetal
2	chr6:5068684-5068734	HL-60	blood:	n/a
3	chr6:5068684-5068734	T-47D	breast:	n/a
4	chr6:5068684-5068734	CMK	blood:	n/a
5	chr6:5068684-5068734	BE2_C	brain:	n/a
6	chr6:5068684-5068734	BJ	skin:	n/a
7	chr6:5068684-5068734	HEEpiC	esophagus:	n/a
8	chr6:5068684-5068734	HRCEpiC	kidney:	n/a
9	chr6:5068684-5068734	AG09319	gingival:	n/a
10	chr6:5068684-5068734	HIPEpiC	eye:	n/a
11	chr6:5068684-5068734	HRE	kidney:	n/a
12	chr6:5068684-5068734	HCT-116	colon:	n/a
13	chr6:5068684-5068734	SK-N-MC	brain:	n/a
14	chr6:5068684-5068734	SK-N-SH	brain:	n/a
15	chr6:5068684-5068734	Caco-2	colon:	n/a
16	chr6:5068684-5068734	HMEC	breast:	n/a
17	chr6:5068684-5068734	NB4	blood:	n/a
18	chr6:5068684-5068734	GM19239	blood:	n/a
19	chr6:5068684-5068734	LNCaP	prostate:	n/a
20	chr6:5068684-5068734	GM12878	blood:	n/a
21	chr6:5068684-5068734	GM12891	blood:	n/a
22	chr6:5068684-5068734	AG10803	skin:	n/a
23	chr6:5068684-5068734	HCF	heart:	n/a
24	chr6:5068684-5068734	HCPEpiC	choroid plexus:	n/a
25	chr6:5068684-5068734	HCM	heart:	n/a
26	chr6:5068684-5068734	HRPEpiC	eye:	n/a
27	chr6:5068684-5068734	HAEpiC	amniotic membrane:	n/a
28	chr6:5068684-5068734	RPTEC	kidney:	n/a
29	chr6:5068684-5068734	H1-hESC	embryonic stem cell:	embryo
30	chr6:5068684-5068734	A549	lung:	n/a
31	chr6:5068684-5068734	Jurkat	blood:	n/a
32	chr6:5068684-5068734	Hepatocyte	liver:	n/a
33	chr6:5068684-5068734	AoSMC	blood vessel:	n/a
34	chr6:5068684-5068734	HEK293	kidney:	embryo
35	chr6:5068684-5068734	ECC-1	luminal epithelium:	n/a
36	chr6:5068684-5068734	NHDF-neo	bronchial:	n/a
37	chr6:5068684-5068734	U87	brain:	n/a
38	chr6:5068684-5068734	MCF10A-Er-Src	breast:	n/a
39	chr6:5068684-5068734	SK-N-SH_RA	brain:	n/a
40	chr6:5068684-5068734	Hela-S3	cervix:	n/a
41	chr6:5068684-5068734	GM06990	blood:	n/a
42	chr6:5068684-5068734	NHBE	bronchial:	n/a
43	chr6:5068684-5068734	HNPCEpiC	eye:	n/a
44	chr6:5068684-5068734	PFSK-1	brain:	n/a
45	chr6:5068684-5068734	SKMC	muscle:	n/a
46	chr6:5068684-5068734	MCF-7	breast:	n/a
47	chr6:5068684-5068734	GM12892	blood:	n/a
48	chr6:5068684-5068734	ovcar-3	ovarian:	n/a
49	chr6:5068684-5068734	HUVEC	blood vessel:	n/a
50	chr6:5068684-5068734	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5067584..5069589-chr6:5073200..5075622,2	MCF-7	breast:
2	chr6:5067420..5070838-chr6:5082550..5086486,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000220685	TF binding region
ENSG00000220685	CpG island
ENSG00000219607	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12333044	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13197040	1.00[ASN][1000 genomes]
rs13216627	1.00[ASN][1000 genomes]
rs13340454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34209281	1.00[EUR][1000 genomes]
rs34826780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35562894	1.00[EUR][1000 genomes]
rs35935509	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35996582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36008381	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359253	1.00[EUR][1000 genomes]
rs926660	1.00[ASN][1000 genomes]
rs9504320	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504321	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1033905	chr6:4955826-5080904	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1024028	chr6:5057399-5081990	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv427744	chr6:5061006-5073109	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1017373	chr6:5066785-5128943	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv538112	chr6:5066785-5128943	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5067400-5074000	Weak transcription	Ovary	ovary
2	chr6:5067600-5068800	Enhancers	Liver	Liver
3	chr6:5067800-5071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:5068200-5068800	Enhancers	Fetal Intestine Large	intestine
5	chr6:5068200-5069000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:5068200-5069000	Flanking Active TSS	HepG2	liver
7	chr6:5068600-5068800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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