Variant report

Variant	rs71567533
Chromosome Location	chr7:98805549-98805550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr7:98805506-98805905	HepG2	liver:	n/a	n/a
2	TEAD4	chr7:98805472-98806019	HepG2	liver:	n/a	n/a
3	GTF3C2	chr7:98805427-98806606	Hela-S3	cervix:	n/a	n/a
4	JUND	chr7:98805536-98806074	A549	lung:	n/a	chr7:98805799-98805810
5	POLR2A	chr7:98805495-98806016	PANC-1	pancreas:	n/a	n/a
6	NR3C1	chr7:98805431-98806030	A549	lung:	n/a	n/a
7	CEBPB	chr7:98805527-98806331	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr7:98805498-98805957	MCF-7	breast:	n/a	n/a
9	GABPA	chr7:98805535-98805933	A549	lung:	n/a	n/a
10	NFIC	chr7:98805519-98806028	HepG2	liver:	n/a	n/a
11	GATA3	chr7:98805449-98806207	MCF-7	breast:	n/a	n/a
12	ATF3	chr7:98805481-98805879	A549	lung:	n/a	n/a
13	SIN3AK20	chr7:98805523-98805936	A549	lung:	n/a	n/a
14	CEBPB	chr7:98805537-98805951	A549	lung:	n/a	n/a
15	EP300	chr7:98805509-98806019	HepG2	liver:	n/a	n/a
16	RCOR1	chr7:98805501-98806050	IMR90	lung:	n/a	n/a
17	JUND	chr7:98805519-98805976	HCT-116	colon:	n/a	chr7:98805799-98805810
18	SP1	chr7:98805387-98806429	A549	lung:	n/a	n/a
19	CEBPB	chr7:98805534-98805976	A549	lung:	n/a	n/a
20	BCL3	chr7:98805540-98806027	A549	lung:	n/a	n/a
21	REST	chr7:98805450-98806027	A549	lung:	n/a	n/a
22	FOSL2	chr7:98805544-98806027	HepG2	liver:	n/a	n/a
23	FOSL2	chr7:98805487-98805970	MCF-7	breast:	n/a	n/a
24	FOSL2	chr7:98805439-98806171	A549	lung:	n/a	n/a
25	SP1	chr7:98805533-98806012	HepG2	liver:	n/a	n/a
26	TCF12	chr7:98805418-98806212	A549	lung:	n/a	n/a
27	TCF12	chr7:98805502-98805921	A549	lung:	n/a	n/a
28	GATA3	chr7:98805416-98806206	A549	lung:	n/a	n/a
29	CEBPB	chr7:98805526-98805972	MCF-7	breast:	n/a	n/a
30	USF1	chr7:98805516-98805946	A549	lung:	n/a	n/a
31	FOSL2	chr7:98805495-98806015	HepG2	liver:	n/a	n/a
32	FOXA2	chr7:98805457-98806070	A549	lung:	n/a	n/a
33	MYBL2	chr7:98805484-98805875	HepG2	liver:	n/a	n/a
34	CHD1	chr7:98805547-98805977	IMR90	lung:	n/a	n/a
35	NR3C1	chr7:98805498-98806030	A549	lung:	n/a	n/a
36	JUND	chr7:98805527-98805993	MCF-7	breast:	n/a	chr7:98805799-98805810
37	SP1	chr7:98805430-98806386	A549	lung:	n/a	n/a
38	NR2F2	chr7:98805456-98805970	MCF-7	breast:	n/a	n/a
39	RAD21	chr7:98805511-98805947	A549	lung:	n/a	n/a
40	NR3C1	chr7:98805538-98806021	A549	lung:	n/a	n/a
41	MAX	chr7:98805548-98805919	MCF-7	breast:	n/a	n/a
42	FOXA1	chr7:98805466-98806034	HepG2	liver:	n/a	n/a
43	GATA3	chr7:98805466-98805931	MCF-7	breast:	n/a	n/a
44	FOSL2	chr7:98805488-98805964	MCF-7	breast:	n/a	n/a
45	EP300	chr7:98805446-98806024	A549	lung:	n/a	n/a
46	FOXA1	chr7:98805540-98806035	HepG2	liver:	n/a	n/a
47	MBD4	chr7:98805546-98805874	HepG2	liver:	n/a	n/a
48	MAX	chr7:98805461-98805978	A549	lung:	n/a	n/a
49	BCL3	chr7:98805542-98806027	A549	lung:	n/a	n/a
50	FOXA2	chr7:98805494-98806063	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98738526..98746153-chr7:98804876..98809686,18	MCF-7	breast:

No data

Variant related genes	Relation type
KPNA7	TF binding region
ENSG00000198742	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10499949	0.86[AMR][1000 genomes]
rs12673754	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705032	0.83[AMR][1000 genomes]
rs12705033	0.86[AMR][1000 genomes]
rs12705034	0.86[AMR][1000 genomes]
rs12705035	0.86[AMR][1000 genomes]
rs12705036	0.86[AMR][1000 genomes]
rs12705038	0.86[AMR][1000 genomes]
rs12705039	0.86[AMR][1000 genomes]
rs12705040	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705041	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705042	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705044	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705050	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13221427	0.86[AMR][1000 genomes]
rs13224433	0.83[AMR][1000 genomes]
rs13236786	0.86[AMR][1000 genomes]
rs13236896	0.86[AMR][1000 genomes]
rs13237093	0.86[AMR][1000 genomes]
rs13238146	0.81[AMR][1000 genomes]
rs13239506	0.86[AMR][1000 genomes]
rs13239596	0.86[AMR][1000 genomes]
rs13242894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13244043	0.83[AMR][1000 genomes]
rs13244579	0.86[AMR][1000 genomes]
rs13244583	0.86[AMR][1000 genomes]
rs13244592	0.86[AMR][1000 genomes]
rs13247718	0.86[AMR][1000 genomes]
rs13247877	0.86[AMR][1000 genomes]
rs13309003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13310182	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13310534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16867592	0.83[AMR][1000 genomes]
rs17161611	0.86[AMR][1000 genomes]
rs17161615	0.86[AMR][1000 genomes]
rs17161617	0.86[AMR][1000 genomes]
rs34088480	0.86[AMR][1000 genomes]
rs34221671	0.86[AMR][1000 genomes]
rs34250243	0.86[AMR][1000 genomes]
rs34350957	0.86[AMR][1000 genomes]
rs34482096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34617837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34715870	0.86[AMR][1000 genomes]
rs34724557	0.86[AMR][1000 genomes]
rs34929886	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34988009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35244406	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35312766	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35397579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35511099	0.86[AMR][1000 genomes]
rs35597916	0.86[AMR][1000 genomes]
rs35615419	0.86[AMR][1000 genomes]
rs61749907	0.86[AMR][1000 genomes]
rs66785725	0.86[AMR][1000 genomes]
rs67422346	0.86[AMR][1000 genomes]
rs67723713	0.86[AMR][1000 genomes]
rs67749476	0.86[AMR][1000 genomes]
rs68076840	0.86[AMR][1000 genomes]
rs71567531	0.86[AMR][1000 genomes]
rs71567534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71567535	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71567536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73401379	0.86[AMR][1000 genomes]
rs73401390	0.83[AMR][1000 genomes]
rs73403103	0.86[AMR][1000 genomes]
rs73403107	0.83[AMR][1000 genomes]
rs7778995	0.86[AMR][1000 genomes]
rs7779268	0.86[AMR][1000 genomes]
rs7779342	0.86[AMR][1000 genomes]
rs7783606	0.86[AMR][1000 genomes]
rs7783618	0.86[AMR][1000 genomes]
rs7787830	0.83[AMR][1000 genomes]
rs7788790	0.86[AMR][1000 genomes]
rs7789312	0.86[AMR][1000 genomes]
rs7793425	0.86[AMR][1000 genomes]
rs7793510	0.86[AMR][1000 genomes]
rs7798877	0.83[ASN][1000 genomes]
rs7805070	0.86[AMR][1000 genomes]
rs7806230	0.86[AMR][1000 genomes]
rs7808942	0.86[AMR][1000 genomes]
rs7809188	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98801400-98807600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:98802000-98805600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:98802600-98805600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:98802600-98823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:98803600-98807800	Enhancers	Stomach Mucosa	stomach
6	chr7:98804400-98807800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:98804600-98805600	Enhancers	Hela-S3	cervix
8	chr7:98804800-98809600	Enhancers	Fetal Intestine Small	intestine
9	chr7:98805000-98806400	Enhancers	HMEC	breast
10	chr7:98805000-98811400	Enhancers	Fetal Intestine Large	intestine
11	chr7:98805200-98806200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:98805200-98806400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:98805400-98805600	Enhancers	Colonic Mucosa	Colon
14	chr7:98805400-98805800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:98805400-98805800	Flanking Active TSS	HepG2	liver
16	chr7:98805400-98805800	Enhancers	NHLF	lung
17	chr7:98805400-98806200	Active TSS	A549	lung
18	chr7:98805400-98806400	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:98805400-98809800	Enhancers	Placenta	Placenta
20	chr7:98805400-98811400	Enhancers	Pancreas	Pancrea

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