Variant report

Variant	rs709607
Chromosome Location	chr7:65449541-65449542
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:65449331-65449623	A549	lung:	n/a	n/a
2	BRCA1	chr7:65449342-65449697	Hela-S3	cervix:	n/a	n/a
3	FOS	chr7:65449313-65449628	MCF10A-Er-Src	breast:	n/a	n/a
4	USF1	chr7:65449249-65449672	ECC-1	luminal epithelium:	n/a	n/a
5	TEAD4	chr7:65449207-65449711	ECC-1	luminal epithelium:	n/a	n/a
6	SRF	chr7:65449139-65449655	MCF-7	breast:	n/a	n/a
7	USF2	chr7:65449298-65449690	Hela-S3	cervix:	n/a	n/a
8	TBP	chr7:65449266-65449604	Hela-S3	cervix:	n/a	n/a
9	GTF2F1	chr7:65449249-65449629	Hela-S3	cervix:	n/a	n/a
10	ZKSCAN1	chr7:65449346-65449586	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr7:65448841-65449773	SK-N-SH	brain:	n/a	n/a
12	HDAC2	chr7:65449224-65449685	MCF-7	breast:	n/a	n/a
13	STAT3	chr7:65449253-65449575	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr7:65449213-65449642	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:65449458-65449566	Hela-S3	cervix:	n/a	n/a
16	JUND	chr7:65449143-65449755	MCF-7	breast:	n/a	n/a
17	NR2F2	chr7:65449166-65449789	MCF-7	breast:	n/a	n/a
18	FOXM1	chr7:65449149-65449772	MCF-7	breast:	n/a	n/a
19	FOXM1	chr7:65449250-65449649	MCF-7	breast:	n/a	n/a
20	HDAC2	chr7:65449142-65449677	MCF-7	breast:	n/a	n/a
21	RFX5	chr7:65449302-65449648	Hela-S3	cervix:	n/a	n/a
22	NFIC	chr7:65448835-65449767	ECC-1	luminal epithelium:	n/a	n/a
23	RAD21	chr7:65449246-65449644	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:65449317-65449606	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr7:65449345-65449608	Hela-S3	cervix:	n/a	n/a
26	TEAD4	chr7:65449202-65449764	ECC-1	luminal epithelium:	n/a	n/a
27	ELF1	chr7:65449146-65449751	MCF-7	breast:	n/a	n/a
28	EP300	chr7:65449160-65449665	MCF-7	breast:	n/a	n/a
29	TCF12	chr7:65448959-65449677	MCF-7	breast:	n/a	n/a
30	EP300	chr7:65449230-65449625	Hela-S3	cervix:	n/a	n/a
31	MAX	chr7:65449244-65449689	Hela-S3	cervix:	n/a	n/a
32	MAX	chr7:65449298-65449693	MCF-7	breast:	n/a	n/a
33	GATA3	chr7:65448970-65449878	MCF-7	breast:	n/a	n/a
34	MYC	chr7:65449228-65449653	MCF10A-Er-Src	breast:	n/a	n/a
35	GATA3	chr7:65449028-65449736	MCF-7	breast:	n/a	n/a
36	NR2F2	chr7:65449040-65449745	MCF-7	breast:	n/a	n/a
37	FOSL2	chr7:65449175-65449593	MCF-7	breast:	n/a	n/a
38	CEBPB	chr7:65449144-65449542	MCF-7	breast:	n/a	n/a
39	ELK1	chr7:65449182-65449681	Hela-S3	cervix:	n/a	n/a
40	MAZ	chr7:65449383-65449624	Hela-S3	cervix:	n/a	n/a
41	FOS	chr7:65449220-65449645	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr7:65449317-65449615	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr7:65449226-65449624	Hela-S3	cervix:	n/a	n/a
44	FOS	chr7:65449371-65449577	MCF10A-Er-Src	breast:	n/a	n/a
45	JUN	chr7:65449274-65449634	Hela-S3	cervix:	n/a	n/a
46	FOS	chr7:65449313-65449579	MCF10A-Er-Src	breast:	n/a	n/a
47	JUND	chr7:65449248-65449660	Hela-S3	cervix:	n/a	n/a
48	RCOR1	chr7:65449220-65449665	Hela-S3	cervix:	n/a	n/a
49	RAD21	chr7:65449268-65449628	Hela-S3	cervix:	n/a	n/a
50	EP300	chr7:65449254-65449722	MCF-7	breast:	n/a	chr7:65449707-65449717

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65449491-65449541	MCF-7	breast:	n/a
2	chr7:65449491-65449541	BE2_C	brain:	n/a
3	chr7:65449491-65449541	T-47D	breast:	n/a
4	chr7:65449491-65449541	NB4	blood:	n/a
5	chr7:65449491-65449541	CMK	blood:	n/a
6	chr7:65449491-65449541	ovcar-3	ovarian:	n/a
7	chr7:65449491-65449541	HMEC	breast:	n/a
8	chr7:65449491-65449541	HRPEpiC	eye:	n/a
9	chr7:65449491-65449541	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:65449491-65449541	HIPEpiC	eye:	n/a
11	chr7:65449491-65449541	ECC-1	luminal epithelium:	n/a
12	chr7:65449491-65449541	HRE	kidney:	n/a
13	chr7:65449491-65449541	HL-60	blood:	n/a
14	chr7:65449491-65449541	GM12891	blood:	n/a
15	chr7:65449491-65449541	A549	lung:	n/a
16	chr7:65449491-65449541	SAEC	small airway:	n/a
17	chr7:65449491-65449541	HEEpiC	esophagus:	n/a
18	chr7:65449491-65449541	HNPCEpiC	eye:	n/a
19	chr7:65449491-65449541	GM06990	blood:	n/a
20	chr7:65449491-65449541	IMR90	lung:	fetal
21	chr7:65449491-65449541	Hepatocyte	liver:	n/a
22	chr7:65449491-65449541	HEK293	kidney:	embryo
23	chr7:65449491-65449541	PANC-1	pancreas:	n/a
24	chr7:65449491-65449541	HCF	heart:	n/a
25	chr7:65449491-65449541	HCPEpiC	choroid plexus:	n/a
26	chr7:65449491-65449541	HepG2	liver:	n/a
27	chr7:65449491-65449541	AG09319	gingival:	n/a
28	chr7:65449491-65449541	HCT-116	colon:	n/a
29	chr7:65449491-65449541	H1-hESC	embryonic stem cell:	embryo
30	chr7:65449491-65449541	PrEC	prostate:	n/a
31	chr7:65449491-65449541	AG09309	skin:	n/a
32	chr7:65449491-65449541	AG04449	skin:	fetal
33	chr7:65449491-65449541	NH-A	brain:	n/a
34	chr7:65449491-65449541	NHBE	bronchial:	n/a
35	chr7:65449491-65449541	SK-N-SH	brain:	n/a
36	chr7:65449491-65449541	GM12892	blood:	n/a
37	chr7:65449491-65449541	LNCaP	prostate:	n/a
38	chr7:65449491-65449541	HRCEpiC	kidney:	n/a
39	chr7:65449491-65449541	NT2-D1	testis:	n/a
40	chr7:65449491-65449541	MCF10A-Er-Src	breast:	n/a
41	chr7:65449491-65449541	HCM	heart:	n/a
42	chr7:65449491-65449541	RPTEC	kidney:	n/a
43	chr7:65449491-65449541	BJ	skin:	n/a
44	chr7:65449491-65449541	HUVEC	blood vessel:	n/a
45	chr7:65449491-65449541	AoSMC	blood vessel:	n/a
46	chr7:65449491-65449541	PFSK-1	brain:	n/a
47	chr7:65449491-65449541	HAEpiC	amniotic membrane:	n/a
48	chr7:65449491-65449541	SK-N-MC	brain:	n/a
49	chr7:65449491-65449541	U87	brain:	n/a
50	chr7:65449491-65449541	ProgFib	skin:	n/a

No data

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

Extended variants
information (count: 212 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:197)

rs_ID	r²[population]
rs1039664	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][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]
rs1061361	0.91[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1134256	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11538349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1177514	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698511	0.98[ASN][1000 genomes]
rs13220979	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13226598	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228133	0.89[ASN][1000 genomes]
rs13233662	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13236109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13246608	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13247184	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13308751	0.80[AMR][1000 genomes]
rs160543	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs160637	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs160638	0.82[AMR][1000 genomes]
rs160639	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs160642	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs160643	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs160644	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs160646	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs160648	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs160649	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs160651	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs160652	1.00[CEU][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs160653	0.86[ASN][1000 genomes]
rs160655	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs160656	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs160657	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1626926	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1701745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1701750	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1701758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1701759	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1715235	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1723265	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1723266	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1723267	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1723269	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1723270	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1723272	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs182600	0.82[AMR][1000 genomes]
rs186378	0.82[AMR][1000 genomes]
rs188765	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1964692	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177703	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243480	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs2257790	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2420172	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2456483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2462569	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2637561	0.82[AMR][1000 genomes]
rs2658583	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2949697	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2961102	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105600	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313798	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313799	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313800	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs313801	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313802	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313803	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313807	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs313808	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs313809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs313813	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs313814	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs313819	0.82[AMR][1000 genomes]
rs313820	0.82[AMR][1000 genomes]
rs313822	0.82[AMR][1000 genomes]
rs313824	0.82[AMR][1000 genomes]
rs313831	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs313832	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs313833	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs316307	0.82[AMR][1000 genomes]
rs316313	0.82[AMR][1000 genomes]
rs316314	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs316315	0.84[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.91[TSI][hapmap]
rs316317	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs316321	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap]
rs316322	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs316326	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs316327	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs316329	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs316331	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap]
rs316334	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs34032527	0.82[AMR][1000 genomes]
rs34136756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34193460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34466769	0.84[ASW][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs34529418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34560516	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34577383	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34586068	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34628538	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34637256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34804747	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34933526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34970380	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34974928	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34983797	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35046236	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35058610	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35087093	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35257008	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35260440	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35268390	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35268411	0.82[ASN][1000 genomes]
rs35283677	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35310401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35391607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35396113	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35421653	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35432774	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35480979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35542501	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35663341	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35679560	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35689884	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35735127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs35820085	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36004293	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36033484	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36068983	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36084489	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs383402	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs392355	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs402418	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs403089	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs419603	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs422164	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs423187	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs427044	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs431076	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs431168	0.92[ASN][1000 genomes]
rs431318	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs437889	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs448377	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs451396	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs458291	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs462853	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs465359	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs466983	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55700941	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55876148	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55886244	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55895244	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55909123	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56016656	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56133509	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56171161	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56291018	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56955188	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56985706	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57057549	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57126451	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58062456	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58207111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58330502	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59794892	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820001	0.96[ASN][1000 genomes]
rs59966766	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60683927	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67728539	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68189316	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6970243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6974723	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs71564939	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73142122	0.80[ASN][1000 genomes]
rs73142137	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73142162	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73142166	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73148097	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150014	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150016	1.00[ASN][1000 genomes]
rs7794661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7795242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs780453	0.82[AMR][1000 genomes]
rs7806717	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781141	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781142	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781150	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781153	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781154	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781155	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs781156	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs906134	0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958550	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888321	chr7:65408904-65449541	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv888322	chr7:65415647-65466565	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv538907	chr7:65417400-65456089	Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv888323	chr7:65418355-65461080	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv888324	chr7:65418876-65466565	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv967489	chr7:65445874-65469129	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs709607	GUSB	cis	Whole Blood	GTEx
rs709607	VKORC1L1	cis	parietal	SCAN
rs709607	CRCP	cis	parietal	SCAN
rs709607	CRCP	cis	cerebellum	SCAN
rs709607	ASL	cis	cerebellum	SCAN
rs709607	KIAA0564	trans	parietal	SCAN
rs709607	VKORC1L1	cis	Whole Blood	GTEx
rs709607	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs709607	ZNF273	cis	parietal	SCAN
rs709607	ZNF117	cis	cerebellum	SCAN
rs709607	RP4-756H11.3	cis	lung	GTEx
rs709607	ZNF117	cis	parietal	SCAN
rs709607	ASL	cis	multi-tissue	Pritchard

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65448200-65452800	Weak transcription	K562	blood
2	chr7:65448800-65449600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr7:65449000-65449600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:65449000-65449600	Enhancers	Fetal Intestine Small	intestine
5	chr7:65449000-65449600	Flanking Active TSS	Hela-S3	cervix
6	chr7:65449000-65449600	Enhancers	HepG2	liver
7	chr7:65449000-65449600	Enhancers	HUVEC	blood vessel
8	chr7:65449000-65450200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:65449200-65449600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:65449200-65449600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:65449200-65449600	Enhancers	HSMM	muscle
12	chr7:65449200-65449600	Enhancers	HSMMtube	muscle
13	chr7:65449200-65449600	Enhancers	NHEK	skin
14	chr7:65449200-65449800	Enhancers	A549	lung
15	chr7:65449200-65480400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:65449400-65449600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:65449400-65449600	Enhancers	Stomach Mucosa	stomach
18	chr7:65449400-65449600	Enhancers	HMEC	breast
19	chr7:65449400-65449800	Enhancers	Fetal Intestine Large	intestine

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