Variant report

Variant	rs13242894
Chromosome Location	chr7:98809835-98809836
allele	A/G
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	FOSL2	chr7:98809281-98809899	A549	lung:	n/a	chr7:98809578-98809587 chr7:98809580-98809587
2	FOXA1	chr7:98809312-98809892	HepG2	liver:	n/a	n/a
3	TEAD4	chr7:98809242-98809842	HepG2	liver:	n/a	n/a
4	MAFK	chr7:98809436-98809835	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:98807413-98810111	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA2	chr7:98809305-98809848	A549	lung:	n/a	n/a
7	TBP	chr7:98809176-98809883	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:98809205-98809859	HepG2	liver:	n/a	n/a
9	FOSL2	chr7:98809146-98809840	MCF-7	breast:	n/a	chr7:98809578-98809587 chr7:98809580-98809587
10	MAX	chr7:98808970-98809941	A549	lung:	n/a	n/a
11	SP1	chr7:98809267-98809974	HepG2	liver:	n/a	chr7:98809765-98809778
12	MAX	chr7:98809227-98809927	A549	lung:	n/a	n/a
13	HNF4A	chr7:98809479-98809837	HepG2	liver:	n/a	chr7:98809629-98809644
14	FOXA2	chr7:98809115-98809949	HepG2	liver:	n/a	n/a
15	EP300	chr7:98809276-98809837	HepG2	liver:	n/a	chr7:98809578-98809587
16	MYBL2	chr7:98809118-98810021	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:98809179-98809899	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr7:98809230-98809877	HepG2	liver:	n/a	n/a
19	FOSL2	chr7:98809166-98809948	A549	lung:	n/a	chr7:98809578-98809587 chr7:98809580-98809587
20	POLR2A	chr7:98809053-98809938	HepG2	liver:	n/a	n/a
21	SP1	chr7:98809091-98810022	A549	lung:	n/a	chr7:98809765-98809778
22	POLR2A	chr7:98809228-98809865	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:98809182-98809835	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:98808713-98810062	HepG2	liver:	n/a	n/a
25	FOXA2	chr7:98809266-98809859	A549	lung:	n/a	n/a
26	SMC3	chr7:98809155-98809844	HepG2	liver:	n/a	chr7:98809379-98809386
27	MBD4	chr7:98809138-98809900	HepG2	liver:	n/a	n/a
28	CEBPB	chr7:98809251-98809870	A549	lung:	n/a	n/a
29	HEY1	chr7:98809191-98809887	HepG2	liver:	n/a	n/a
30	FOXA1	chr7:98809134-98809872	HepG2	liver:	n/a	n/a
31	HEY1	chr7:98809152-98809940	HepG2	liver:	n/a	n/a
32	GATA3	chr7:98809059-98809872	MCF-7	breast:	n/a	n/a
33	TCF12	chr7:98808859-98809942	A549	lung:	n/a	chr7:98809542-98809549
34	POLR2A	chr7:98809148-98809893	HepG2	liver:	n/a	n/a
35	MYBL2	chr7:98809155-98809934	HepG2	liver:	n/a	n/a
36	FOSL2	chr7:98809228-98809839	HepG2	liver:	n/a	chr7:98809578-98809587 chr7:98809580-98809587
37	MAX	chr7:98809160-98809864	MCF-7	breast:	n/a	n/a
38	FOXA1	chr7:98809277-98809866	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:98807183..98812417-chr7:98813436..98818450,10	MCF-7	breast:
2	chr7:98807265..98810785-chr7:98821071..98827725,5	MCF-7	breast:
3	chr7:98679090..98681907-chr7:98808014..98810256,2	MCF-7	breast:
4	chr7:98797515..98801446-chr7:98806232..98810784,4	MCF-7	breast:
5	chr7:98807837..98811719-chr7:98828623..98830666,3	MCF-7	breast:
6	chr7:98694785..98697794-chr7:98808193..98811176,3	MCF-7	breast:
7	chr12:7052866..7053675-chr7:98809226..98809919,2	HCT-116	colon:
8	chr7:98808636..98811320-chr7:98812026..98815181,4	MCF-7	breast:
9	chr7:98807843..98809841-chr7:98921913..98924740,2	MCF-7	breast:
10	chr7:98740103..98745000-chr7:98806658..98810214,11	MCF-7	breast:
11	chr7:98808174..98810651-chr7:98856542..98858905,3	MCF-7	breast:

Variant related genes	Relation type
KPNA7	TF binding region
ENSG00000198742	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000238923	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10499949	1.00[CEU][hapmap];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	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs12705035	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs12705036	1.00[CEU][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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];1.00[ASN][1000 genomes]
rs12705044	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705050	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705052	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221427	0.86[AMR][1000 genomes]
rs13224433	1.00[CEU][hapmap];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	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs13239596	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs13244043	0.83[AMR][1000 genomes]
rs13244327	1.00[CEU][hapmap]
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	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs13309003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867592	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs17161611	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs17161615	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs17161617	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs17161618	1.00[CEU][hapmap]
rs17161622	1.00[CEU][hapmap]
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];1.00[ASN][1000 genomes]
rs34617837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];1.00[ASN][1000 genomes]
rs35244406	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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];1.00[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]
rs71567533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71567534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71567535	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71567536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7779342	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7783606	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7783618	0.86[AMR][1000 genomes]
rs7787830	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs7788790	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7789312	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7793425	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7793510	0.86[AMR][1000 genomes]
rs7798877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7805070	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7806230	0.86[AMR][1000 genomes]
rs7808942	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs7809188	1.00[CEU][hapmap];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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98802600-98823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:98805000-98811400	Enhancers	Fetal Intestine Large	intestine
3	chr7:98805400-98811400	Enhancers	Pancreas	Pancrea
4	chr7:98807600-98810000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:98808400-98811600	Enhancers	Stomach Mucosa	stomach
6	chr7:98809400-98810000	Active TSS	HepG2	liver
7	chr7:98809600-98810000	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr7:98809600-98810000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr7:98809800-98810000	Enhancers	Hela-S3	cervix
10	chr7:98809800-98810400	Enhancers	Liver	Liver
11	chr7:98809800-98810600	Enhancers	A549	lung

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