Variant report

Variant	rs3806732
Chromosome Location	chr4:77069733-77069734
allele	A/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	MAX	chr4:77069357-77070098	H1-hESC	embryonic stem cell:	n/a	n/a
2	PBX3	chr4:77069250-77070014	SK-N-SH	brain:	n/a	n/a
3	ELK4	chr4:77069447-77069934	Hela-S3	cervix:	n/a	chr4:77069713-77069722 chr4:77069714-77069722
4	GABPA	chr4:77068846-77070144	K562	blood:	n/a	n/a
5	YY1	chr4:77069186-77069958	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:77068781-77070024	SK-N-SH	brain:	n/a	n/a
7	SP1	chr4:77069361-77069884	GM12878	blood:	n/a	n/a
8	USF2	chr4:77069485-77070036	GM12878	blood:	n/a	n/a
9	GATA1	chr4:77068148-77070055	PBDE	blood:	n/a	chr4:77068507-77068514 chr4:77068392-77068401 chr4:77068860-77068867 chr4:77068507-77068517 chr4:77068500-77068521 chr4:77068860-77068870 chr4:77068505-77068514 chr4:77068855-77068871
10	SIX5	chr4:77069441-77069765	K562	blood:	n/a	n/a
11	POLR2A	chr4:77069292-77069869	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr4:77068839-77070168	MCF-7	breast:	n/a	n/a
13	MAX	chr4:77068771-77070023	ECC-1	luminal epithelium:	n/a	n/a
14	ETS1	chr4:77068820-77070025	K562	blood:	n/a	chr4:77069710-77069726 chr4:77069712-77069725 chr4:77069713-77069722 chr4:77069713-77069722 chr4:77069713-77069722 chr4:77069711-77069721 chr4:77069713-77069722 chr4:77069713-77069722 chr4:77069713-77069722 chr4:77069713-77069722 chr4:77069002-77069013
15	GTF2F1	chr4:77068979-77070150	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr4:77068983-77069801	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr4:77068747-77070150	K562	blood:	n/a	n/a
18	YY1	chr4:77069370-77069868	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL3	chr4:77069356-77069851	A549	lung:	n/a	chr4:77069713-77069722
20	TCF7L2	chr4:77069165-77069885	Hela-S3	cervix:	n/a	n/a
21	TAF1	chr4:77069310-77069892	GM12891	blood:	n/a	n/a
22	GABPA	chr4:77069315-77069826	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr4:77069441-77069829	GM12878	blood:	n/a	n/a
24	RELA	chr4:77069410-77069982	GM19193	blood:	n/a	n/a
25	CHD1	chr4:77068714-77069991	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:77068909-77070137	HUVEC	blood vessel:	n/a	n/a
27	PAX5	chr4:77069390-77069757	GM12878	blood:	n/a	chr4:77069713-77069722
28	FOXM1	chr4:77069336-77069909	GM12878	blood:	n/a	n/a
29	REST	chr4:77068836-77070222	H1-neurons	neurons:	n/a	n/a
30	MAFK	chr4:77069543-77070024	IMR90	lung:	n/a	chr4:77069909-77069923 chr4:77069906-77069926
31	E2F6	chr4:77068900-77070133	K562	blood:	n/a	n/a
32	POLR2A	chr4:77068853-77070194	U87	brain:	n/a	n/a
33	TAL1	chr4:77068788-77069995	K562	blood:	n/a	n/a
34	EGR1	chr4:77069377-77069899	MCF-7	breast:	n/a	chr4:77069398-77069411 chr4:77069713-77069722 chr4:77069621-77069635
35	RCOR1	chr4:77069413-77069906	GM12878	blood:	n/a	n/a
36	ZBTB33	chr4:77069343-77069778	HCT-116	colon:	n/a	n/a
37	IRF3	chr4:77069497-77069842	GM12878	blood:	n/a	n/a
38	EP300	chr4:77068638-77069907	K562	blood:	n/a	chr4:77068842-77068856 chr4:77069714-77069721 chr4:77068837-77068851
39	FOS	chr4:77069506-77070004	HUVEC	blood vessel:	n/a	n/a
40	MXI1	chr4:77069386-77069952	Hela-S3	cervix:	n/a	n/a
41	MAFK	chr4:77069463-77069955	H1-hESC	embryonic stem cell:	n/a	chr4:77069909-77069923 chr4:77069906-77069926
42	SIN3AK20	chr4:77069332-77069799	A549	lung:	n/a	n/a
43	SP1	chr4:77069351-77069905	K562	blood:	n/a	n/a
44	POLR2A	chr4:77068838-77069956	Hela-S3	cervix:	n/a	n/a
45	MAX	chr4:77069496-77070132	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr4:77068926-77069997	HepG2	liver:	n/a	n/a
47	ELK1	chr4:77069466-77069902	K562	blood:	n/a	chr4:77069713-77069722 chr4:77069713-77069722
48	EGR1	chr4:77069380-77069834	GM12878	blood:	n/a	chr4:77069398-77069411 chr4:77069713-77069722 chr4:77069621-77069635
49	ZNF384	chr4:77069412-77069759	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:77068787-77070125	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:77069698-77069748	T-47D	breast:	n/a
2	chr4:77069719-77069769	A549	lung:	n/a
3	chr4:77069719-77069769	PrEC	prostate:	n/a
4	chr4:77069698-77069748	BE2_C	brain:	n/a
5	chr4:77069698-77069748	PFSK-1	brain:	n/a
6	chr4:77069719-77069769	HCPEpiC	choroid plexus:	n/a
7	chr4:77069698-77069748	NT2-D1	testis:	n/a
8	chr4:77069698-77069748	AG04450	lung:	fetal
9	chr4:77069698-77069748	IMR90	lung:	fetal
10	chr4:77069698-77069748	BJ	skin:	n/a
11	chr4:77069719-77069769	MCF10A-Er-Src	breast:	n/a
12	chr4:77069719-77069769	PFSK-1	brain:	n/a
13	chr4:77069698-77069748	A549	lung:	n/a
14	chr4:77069719-77069769	LNCaP	prostate:	n/a
15	chr4:77069698-77069748	NH-A	brain:	n/a
16	chr4:77069719-77069769	NH-A	brain:	n/a
17	chr4:77069698-77069748	SK-N-SH	brain:	n/a
18	chr4:77069698-77069748	HCF	heart:	n/a
19	chr4:77069719-77069769	SKMC	muscle:	n/a
20	chr4:77069698-77069748	MCF-7	breast:	n/a
21	chr4:77069698-77069748	RPTEC	kidney:	n/a
22	chr4:77069719-77069769	AG09309	skin:	n/a
23	chr4:77069698-77069748	HRE	kidney:	n/a
24	chr4:77069719-77069769	RPTEC	kidney:	n/a
25	chr4:77069719-77069769	Hepatocyte	liver:	n/a
26	chr4:77069719-77069769	T-47D	breast:	n/a
27	chr4:77069698-77069748	HepG2	liver:	n/a
28	chr4:77069698-77069748	HPAEpiC	pulmonary alveolar:	n/a
29	chr4:77069698-77069748	HCM	heart:	n/a
30	chr4:77069719-77069769	GM12878	blood:	n/a
31	chr4:77069719-77069769	NHDF-neo	bronchial:	n/a
32	chr4:77069719-77069769	SK-N-MC	brain:	n/a
33	chr4:77069698-77069748	HRPEpiC	eye:	n/a
34	chr4:77069698-77069748	HEK293	kidney:	embryo
35	chr4:77069698-77069748	U87	brain:	n/a
36	chr4:77069719-77069769	HRPEpiC	eye:	n/a
37	chr4:77069698-77069748	SK-N-MC	brain:	n/a
38	chr4:77069698-77069748	H1-hESC	embryonic stem cell:	embryo
39	chr4:77069719-77069769	BJ	skin:	n/a
40	chr4:77069719-77069769	SK-N-SH_RA	brain:	n/a
41	chr4:77069719-77069769	HCM	heart:	n/a
42	chr4:77069719-77069769	HRE	kidney:	n/a
43	chr4:77069719-77069769	HRCEpiC	kidney:	n/a
44	chr4:77069698-77069748	HRCEpiC	kidney:	n/a
45	chr4:77069719-77069769	NHBE	bronchial:	n/a
46	chr4:77069698-77069748	LNCaP	prostate:	n/a
47	chr4:77069698-77069748	HUVEC	blood vessel:	n/a
48	chr4:77069698-77069748	ovcar-3	ovarian:	n/a
49	chr4:77069698-77069748	GM06990	blood:	n/a
50	chr4:77069698-77069748	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77069302..77071113-chr4:77170408..77173032,2	MCF-7	breast:
2	chr4:77050141..77053778-chr4:77066166..77070004,4	MCF-7	breast:
3	chr4:76910882..76913070-chr4:77069181..77071952,2	MCF-7	breast:
4	chr4:77027487..77029799-chr4:77068169..77070683,2	K562	blood:
5	chr4:77066331..77070645-chr4:77133023..77136401,5	K562	blood:
6	chr18:9474779..9475635-chr4:77069246..77070192,2	Hela-S3	cervix:
7	chr4:76860116..76861672-chr4:77068138..77069757,2	MCF-7	breast:
8	chr4:77065569..77067596-chr4:77067716..77071190,4	MCF-7	breast:
9	chr20:30192878..30193473-chr4:77069155..77070047,2	HCT-116	colon:
10	chr4:77069655..77071461-chr4:77869809..77871934,2	K562	blood:
11	chr4:77054225..77056351-chr4:77067941..77069735,2	MCF-7	breast:
12	chr4:77068043..77069924-chr4:77085351..77088646,3	K562	blood:
13	chr4:77065717..77067394-chr4:77069102..77070883,2	MCF-7	breast:

Variant related genes	Relation type
NUP54	TF binding region
NUP54	CpG island
ENSG00000156219	Chromatin interaction
ENSG00000138750	Chromatin interaction
ENSG00000272414	Chromatin interaction
ENSG00000138760	Chromatin interaction
ENSG00000118804	Chromatin interaction
ENSG00000198301	Chromatin interaction
ENSG00000189157	Chromatin interaction
ENSG00000138758	Chromatin interaction
ENSG00000138744	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 256 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:246)

rs_ID	r²[population]
rs1051326	0.84[EUR][1000 genomes]
rs10518144	0.81[EUR][1000 genomes]
rs10654	0.81[EUR][1000 genomes]
rs1078350	0.81[EUR][1000 genomes]
rs11097244	0.94[EUR][1000 genomes]
rs1127695	0.81[EUR][1000 genomes]
rs11558468	0.94[EUR][1000 genomes]
rs11558469	0.94[EUR][1000 genomes]
rs11722957	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11724260	0.94[EUR][1000 genomes]
rs11724543	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11725016	0.94[EUR][1000 genomes]
rs11725489	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11726372	0.81[EUR][1000 genomes]
rs11727718	0.94[EUR][1000 genomes]
rs11729334	0.81[EUR][1000 genomes]
rs11729637	0.81[EUR][1000 genomes]
rs11729695	0.94[EUR][1000 genomes]
rs11729776	0.94[EUR][1000 genomes]
rs11729810	0.94[EUR][1000 genomes]
rs11729816	0.87[EUR][1000 genomes]
rs11730695	0.92[EUR][1000 genomes]
rs11730696	0.92[EUR][1000 genomes]
rs11733489	0.81[EUR][1000 genomes]
rs11735958	0.94[EUR][1000 genomes]
rs11736405	0.94[EUR][1000 genomes]
rs11736825	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11932708	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11938734	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11938770	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11941824	0.84[ASN][1000 genomes]
rs11947701	0.84[EUR][1000 genomes]
rs12641564	0.82[ASN][1000 genomes]
rs13151075	0.84[ASN][1000 genomes]
rs1465919	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1465920	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1465921	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17001422	0.81[EUR][1000 genomes]
rs17001424	0.81[EUR][1000 genomes]
rs17001433	0.81[EUR][1000 genomes]
rs17001531	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17001532	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17001533	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17001562	0.84[EUR][1000 genomes]
rs17001584	0.81[EUR][1000 genomes]
rs17001594	0.85[EUR][1000 genomes]
rs17001603	0.81[EUR][1000 genomes]
rs17001640	0.80[EUR][1000 genomes]
rs1965813	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2289512	0.84[EUR][1000 genomes]
rs2289513	0.84[EUR][1000 genomes]
rs28479255	0.94[EUR][1000 genomes]
rs33997696	0.81[EUR][1000 genomes]
rs34153791	0.92[EUR][1000 genomes]
rs34384134	0.88[EUR][1000 genomes]
rs34504521	0.80[EUR][1000 genomes]
rs35040945	0.91[EUR][1000 genomes]
rs35369082	0.83[EUR][1000 genomes]
rs35672178	0.91[EUR][1000 genomes]
rs35914862	0.80[EUR][1000 genomes]
rs3733257	0.84[EUR][1000 genomes]
rs3733258	0.84[EUR][1000 genomes]
rs3733259	0.81[EUR][1000 genomes]
rs3796496	0.84[EUR][1000 genomes]
rs3806728	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3806729	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3806731	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3806733	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3821981	0.84[EUR][1000 genomes]
rs3821982	0.84[EUR][1000 genomes]
rs41284767	0.84[EUR][1000 genomes]
rs41498548	0.81[EUR][1000 genomes]
rs4267762	0.94[EUR][1000 genomes]
rs4403073	0.81[EUR][1000 genomes]
rs4408983	0.81[EUR][1000 genomes]
rs4478213	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4481255	0.94[EUR][1000 genomes]
rs4597859	0.92[EUR][1000 genomes]
rs4604075	0.94[EUR][1000 genomes]
rs55917550	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56085800	0.83[EUR][1000 genomes]
rs56136722	0.83[EUR][1000 genomes]
rs56247019	0.81[EUR][1000 genomes]
rs56669417	0.81[EUR][1000 genomes]
rs56670659	0.81[EUR][1000 genomes]
rs56788469	0.81[EUR][1000 genomes]
rs56887664	0.81[EUR][1000 genomes]
rs56923677	0.94[EUR][1000 genomes]
rs56985043	0.94[EUR][1000 genomes]
rs56986239	0.84[EUR][1000 genomes]
rs57268096	0.81[EUR][1000 genomes]
rs57313943	0.94[EUR][1000 genomes]
rs57317548	0.94[EUR][1000 genomes]
rs57374265	0.81[EUR][1000 genomes]
rs57765272	0.94[EUR][1000 genomes]
rs57928417	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57960366	0.81[EUR][1000 genomes]
rs58036109	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58127619	0.81[EUR][1000 genomes]
rs58247315	0.94[EUR][1000 genomes]
rs58305323	0.92[EUR][1000 genomes]
rs58319866	0.81[EUR][1000 genomes]
rs58358710	0.80[EUR][1000 genomes]
rs58380268	0.81[EUR][1000 genomes]
rs58528289	0.94[EUR][1000 genomes]
rs58695482	0.94[EUR][1000 genomes]
rs58728245	0.94[EUR][1000 genomes]
rs58822235	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58911257	0.94[EUR][1000 genomes]
rs58943792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59084193	0.94[EUR][1000 genomes]
rs59105778	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59547714	0.81[EUR][1000 genomes]
rs59786688	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59789355	0.81[EUR][1000 genomes]
rs59847929	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59850201	0.90[EUR][1000 genomes]
rs59927725	0.94[EUR][1000 genomes]
rs60015167	0.94[EUR][1000 genomes]
rs60017148	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60157651	0.83[EUR][1000 genomes]
rs60160936	0.81[EUR][1000 genomes]
rs60387070	0.81[EUR][1000 genomes]
rs60455690	0.94[EUR][1000 genomes]
rs60523248	0.94[EUR][1000 genomes]
rs60573877	0.81[EUR][1000 genomes]
rs60610578	0.81[EUR][1000 genomes]
rs60671651	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60675531	0.94[EUR][1000 genomes]
rs60913446	0.94[EUR][1000 genomes]
rs61099048	0.81[EUR][1000 genomes]
rs61102074	0.93[EUR][1000 genomes]
rs61123262	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61262669	0.84[EUR][1000 genomes]
rs61294914	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61360019	0.94[EUR][1000 genomes]
rs61369069	0.81[EUR][1000 genomes]
rs61391079	0.80[EUR][1000 genomes]
rs61598131	0.84[EUR][1000 genomes]
rs61662067	0.94[EUR][1000 genomes]
rs62299341	0.81[EUR][1000 genomes]
rs62299342	0.81[EUR][1000 genomes]
rs62299348	0.81[EUR][1000 genomes]
rs62299349	0.81[EUR][1000 genomes]
rs62299350	0.81[EUR][1000 genomes]
rs62299354	0.81[EUR][1000 genomes]
rs62299355	0.81[EUR][1000 genomes]
rs62300565	0.94[EUR][1000 genomes]
rs62300570	0.94[EUR][1000 genomes]
rs62300572	0.94[EUR][1000 genomes]
rs62300573	0.94[EUR][1000 genomes]
rs62300609	0.94[EUR][1000 genomes]
rs62300610	0.94[EUR][1000 genomes]
rs62300611	0.94[EUR][1000 genomes]
rs62300615	0.94[EUR][1000 genomes]
rs62300616	0.89[EUR][1000 genomes]
rs62300617	0.92[EUR][1000 genomes]
rs62300618	0.94[EUR][1000 genomes]
rs62300619	0.94[EUR][1000 genomes]
rs62300620	0.94[EUR][1000 genomes]
rs62300621	0.94[EUR][1000 genomes]
rs62300624	0.94[EUR][1000 genomes]
rs62300625	0.94[EUR][1000 genomes]
rs62300626	0.94[EUR][1000 genomes]
rs62300627	0.94[EUR][1000 genomes]
rs62300628	0.94[EUR][1000 genomes]
rs62300629	0.94[EUR][1000 genomes]
rs62300630	0.92[EUR][1000 genomes]
rs62300633	0.94[EUR][1000 genomes]
rs62300636	0.94[EUR][1000 genomes]
rs62302566	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62302649	0.85[EUR][1000 genomes]
rs62302654	0.82[EUR][1000 genomes]
rs62302656	0.84[EUR][1000 genomes]
rs62302659	0.81[EUR][1000 genomes]
rs62302961	0.81[EUR][1000 genomes]
rs62318925	0.81[EUR][1000 genomes]
rs62318926	0.81[EUR][1000 genomes]
rs62318928	0.81[EUR][1000 genomes]
rs62318929	0.81[EUR][1000 genomes]
rs6532201	0.81[EUR][1000 genomes]
rs6532225	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6532226	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6532227	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6532229	0.84[EUR][1000 genomes]
rs6532232	0.84[EUR][1000 genomes]
rs6811781	0.80[EUR][1000 genomes]
rs6813486	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6813732	0.81[EUR][1000 genomes]
rs6823680	0.84[EUR][1000 genomes]
rs6824251	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6824981	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6836703	0.89[ASN][1000 genomes]
rs6838328	0.89[ASN][1000 genomes]
rs6838435	0.82[ASN][1000 genomes]
rs6840007	0.81[EUR][1000 genomes]
rs6841815	0.85[EUR][1000 genomes]
rs6843361	0.89[ASN][1000 genomes]
rs6846685	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6846711	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6847897	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6848297	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6850228	0.82[ASN][1000 genomes]
rs6852859	0.81[EUR][1000 genomes]
rs6856063	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6856325	0.81[EUR][1000 genomes]
rs6856933	0.84[EUR][1000 genomes]
rs6857806	0.84[EUR][1000 genomes]
rs747908	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs747909	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7657846	0.81[EUR][1000 genomes]
rs7664821	0.81[EUR][1000 genomes]
rs7666779	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7666848	0.81[EUR][1000 genomes]
rs7667681	0.84[EUR][1000 genomes]
rs7667810	0.94[EUR][1000 genomes]
rs7668038	0.94[EUR][1000 genomes]
rs7668507	0.81[EUR][1000 genomes]
rs7668869	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7674984	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7675107	0.81[EUR][1000 genomes]
rs7675428	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7676834	0.85[EUR][1000 genomes]
rs7677231	0.84[EUR][1000 genomes]
rs7679611	0.81[EUR][1000 genomes]
rs7679797	0.83[EUR][1000 genomes]
rs7686854	0.91[EUR][1000 genomes]
rs7686870	0.92[EUR][1000 genomes]
rs7688452	0.94[EUR][1000 genomes]
rs7690763	0.81[EUR][1000 genomes]
rs7692202	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7693762	0.81[EUR][1000 genomes]
rs7695601	0.81[EUR][1000 genomes]
rs7696379	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7697580	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7697701	0.81[EUR][1000 genomes]
rs7697777	0.86[EUR][1000 genomes]
rs7698392	0.94[EUR][1000 genomes]
rs8475	0.84[EUR][1000 genomes]
rs894245	0.90[EUR][1000 genomes]
rs894246	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs894254	0.84[ASN][1000 genomes]
rs9917853	0.94[EUR][1000 genomes]
rs9917948	0.94[EUR][1000 genomes]
rs9918072	0.94[EUR][1000 genomes]
rs999357	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv470047	chr4:77033590-77096777	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv594693	chr4:77033590-77101068	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1008318	chr4:77042356-77095658	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers 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
8	nsv537144	chr4:77042356-77095658	Weak transcription Enhancers Strong transcription Active TSS 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 lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1000539	chr4:77042356-77105492	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1000178	chr4:77053046-77113080	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3806732	NUP54	cis	Nerve Tibial	GTEx
rs3806732	NUP54	cis	Thyroid	GTEx
rs3806732	NUP54	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77066000-77070800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr4:77066600-77070800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr4:77067000-77070600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr4:77067200-77070600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:77067200-77070600	Active TSS	K562	blood
6	chr4:77067200-77070800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr4:77067400-77070800	Active TSS	A549	lung
8	chr4:77067400-77071200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:77067600-77070400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:77067600-77070600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:77067600-77070600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:77067600-77070600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:77067800-77070400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr4:77067800-77070400	Active TSS	NHLF	lung
15	chr4:77067800-77070600	Active TSS	Right Atrium	heart
16	chr4:77067800-77070600	Active TSS	NHDF-Ad	bronchial
17	chr4:77067800-77070800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:77067800-77071000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr4:77068000-77069800	Active TSS	Stomach Smooth Muscle	stomach
20	chr4:77068000-77070000	Active TSS	HMEC	breast
21	chr4:77068000-77070400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr4:77068000-77070600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:77068000-77070800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:77068200-77069800	Active TSS	Hela-S3	cervix
25	chr4:77068200-77070200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:77068200-77070400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr4:77068200-77070400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:77068200-77070400	Active TSS	Colonic Mucosa	Colon
29	chr4:77068200-77070400	Active TSS	Ovary	ovary
30	chr4:77068200-77070600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:77068200-77070600	Active TSS	Psoas Muscle	Psoas
32	chr4:77068400-77070000	Active TSS	Brain Germinal Matrix	brain
33	chr4:77068400-77070000	Active TSS	NH-A	brain
34	chr4:77068400-77070200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:77068400-77070200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:77068400-77070200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:77068400-77070200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:77068400-77070200	Active TSS	Fetal Intestine Small	intestine
39	chr4:77068400-77070200	Active TSS	Thymus	Thymus
40	chr4:77068400-77070400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:77068400-77070400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:77068400-77070400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr4:77068400-77070400	Active TSS	Right Ventricle	heart
44	chr4:77068400-77070400	Active TSS	GM12878-XiMat	blood
45	chr4:77068400-77070600	Active TSS	Fetal Intestine Large	intestine
46	chr4:77068400-77070600	Active TSS	Fetal Muscle Trunk	muscle
47	chr4:77068400-77070800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:77068400-77070800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:77068400-77071000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:77068600-77069800	Active TSS	Fetal Brain Male	brain

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Variant report

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