Variant report

Variant	rs6593061
Chromosome Location	chr7:53255076-53255077
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:53254861-53255173	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:53254831-53255211	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:53254849-53255174	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:53254830-53255160	A549	lung:	n/a	n/a
5	POLR2A	chr7:53254789-53255309	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:53254748-53255134	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:53254742-53255267	GM12892	blood:	n/a	n/a
8	TAF1	chr7:53254766-53255124	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:53254766-53255099	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:53254802-53255138	MCF-7	breast:	n/a	n/a
11	MYC	chr7:53255066-53255082	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:53254972-53255191	GM12878	blood:	n/a	n/a
13	MYC	chr7:53254991-53255117	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:53254797-53255183	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:53254745-53255118	A549	lung:	n/a	n/a
16	POLR2A	chr7:53254732-53255158	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:53255063-53255089	A549	lung:	n/a	n/a
18	POLR2A	chr7:53254755-53255116	GM12892	blood:	n/a	n/a
19	POLR2A	chr7:53254748-53255184	GM12892	blood:	n/a	n/a
20	GABPA	chr7:53255021-53255122	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:53255042-53255095	K562	blood:	n/a	n/a
22	POLR2A	chr7:53254775-53255201	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:53255065-53255115	HL-60	blood:	n/a
2	chr7:53255065-53255115	CMK	blood:	n/a
3	chr7:53255065-53255115	GM12878	blood:	n/a
4	chr7:53255065-53255115	HCT-116	colon:	n/a
5	chr7:53255065-53255115	U87	brain:	n/a
6	chr7:53255065-53255115	SK-N-MC	brain:	n/a
7	chr7:53255065-53255115	HRPEpiC	eye:	n/a
8	chr7:53255065-53255115	NT2-D1	testis:	n/a
9	chr7:53255065-53255115	HCPEpiC	choroid plexus:	n/a
10	chr7:53255065-53255115	AG04450	lung:	fetal
11	chr7:53255065-53255115	HCM	heart:	n/a
12	chr7:53255065-53255115	LNCaP	prostate:	n/a
13	chr7:53255065-53255115	HRE	kidney:	n/a
14	chr7:53255065-53255115	NH-A	brain:	n/a
15	chr7:53255065-53255115	ovcar-3	ovarian:	n/a
16	chr7:53255065-53255115	AG09319	gingival:	n/a
17	chr7:53255065-53255115	HepG2	liver:	n/a
18	chr7:53255065-53255115	GM12892	blood:	n/a
19	chr7:53255065-53255115	A549	lung:	n/a
20	chr7:53255065-53255115	PrEC	prostate:	n/a
21	chr7:53255065-53255115	SAEC	small airway:	n/a
22	chr7:53255065-53255115	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:53255065-53255115	Hela-S3	cervix:	n/a
24	chr7:53255065-53255115	ECC-1	luminal epithelium:	n/a
25	chr7:53255065-53255115	NHDF-neo	bronchial:	n/a
26	chr7:53255065-53255115	K562	blood:	n/a
27	chr7:53255065-53255115	PANC-1	pancreas:	n/a
28	chr7:53255065-53255115	HEEpiC	esophagus:	n/a
29	chr7:53255065-53255115	RPTEC	kidney:	n/a
30	chr7:53255065-53255115	AG04449	skin:	fetal
31	chr7:53255065-53255115	SKMC	muscle:	n/a
32	chr7:53255065-53255115	AoSMC	blood vessel:	n/a
33	chr7:53255065-53255115	Hepatocyte	liver:	n/a
34	chr7:53255065-53255115	T-47D	breast:	n/a
35	chr7:53255065-53255115	BE2_C	brain:	n/a
36	chr7:53255065-53255115	HUVEC	blood vessel:	n/a
37	chr7:53255065-53255115	Jurkat	blood:	n/a
38	chr7:53255065-53255115	HEK293	kidney:	embryo
39	chr7:53255065-53255115	HCF	heart:	n/a
40	chr7:53255065-53255115	AG10803	skin:	n/a
41	chr7:53255065-53255115	GM06990	blood:	n/a
42	chr7:53255065-53255115	HMEC	breast:	n/a
43	chr7:53255065-53255115	AG09309	skin:	n/a
44	chr7:53255065-53255115	MCF10A-Er-Src	breast:	n/a
45	chr7:53255065-53255115	HAEpiC	amniotic membrane:	n/a
46	chr7:53255065-53255115	BJ	skin:	n/a
47	chr7:53255065-53255115	GM19239	blood:	n/a
48	chr7:53255065-53255115	NB4	blood:	n/a
49	chr7:53255065-53255115	GM12891	blood:	n/a
50	chr7:53255065-53255115	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
HAUS6P1	TF binding region
HAUS6P1	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6593060	0.98[ASN][1000 genomes]
rs6957310	0.88[EUR][1000 genomes]
rs6960033	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017676	chr7:52932139-53350524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv888034	chr7:53026365-53611898	Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3516146	chr7:53099945-53356180	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3516147	chr7:53099945-53356180	Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1017269	chr7:53142462-53605487	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv538846	chr7:53142462-53605487	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv831002	chr7:53153000-53349016	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv888039	chr7:53232207-53611898	Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1019093	chr7:53251834-53398932	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53254800-53255200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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