Variant report

Variant	rs3731487
Chromosome Location	chr3:48229624-48229625
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	POLR2A	chr3:48229622-48230408	U87	brain:	n/a	n/a
2	MXI1	chr3:48228989-48230395	HepG2	liver:	n/a	n/a
3	CREB1	chr3:48229461-48230356	A549	lung:	n/a	n/a
4	POLR2A	chr3:48229282-48230279	HUVEC	blood vessel:	n/a	n/a
5	NR2F2	chr3:48229583-48230302	K562	blood:	n/a	chr3:48230116-48230131
6	MAX	chr3:48229390-48230307	K562	blood:	n/a	n/a
7	POLR2A	chr3:48229565-48229954	GM12892	blood:	n/a	n/a
8	MAX	chr3:48229606-48230435	SK-N-SH	brain:	n/a	n/a
9	BHLHE40	chr3:48229607-48230345	GM12878	blood:	n/a	chr3:48229913-48229929 chr3:48229684-48229700
10	RCOR1	chr3:48229594-48230261	Hela-S3	cervix:	n/a	n/a
11	RELA	chr3:48229186-48230359	GM18951	blood:	n/a	n/a
12	MAX	chr3:48228375-48230532	HepG2	liver:	n/a	chr3:48228623-48228633 chr3:48228622-48228633
13	NFYA	chr3:48229432-48230328	Hela-S3	cervix:	n/a	chr3:48230008-48230022 chr3:48230007-48230019 chr3:48230008-48230026 chr3:48229958-48229968 chr3:48230008-48230023 chr3:48229956-48229971 chr3:48230008-48230023
14	POLR2A	chr3:48229113-48230369	GM18951	blood:	n/a	n/a
15	POLR2A	chr3:48229067-48230413	GM15510	blood:	n/a	n/a
16	MAX	chr3:48229415-48230394	HepG2	liver:	n/a	n/a
17	MAX	chr3:48229482-48230418	H1-hESC	embryonic stem cell:	n/a	n/a
18	RUNX3	chr3:48229445-48230331	GM12878	blood:	n/a	chr3:48229887-48229904
19	RUNX3	chr3:48229435-48230326	GM12878	blood:	n/a	chr3:48229887-48229904
20	HMGN3	chr3:48229098-48230310	K562	blood:	n/a	n/a
21	ELF1	chr3:48229462-48230396	GM12878	blood:	n/a	n/a
22	E2F4	chr3:48229458-48230310	Hela-S3	cervix:	n/a	chr3:48229942-48229952 chr3:48229940-48229951 chr3:48229943-48229952 chr3:48229940-48229951 chr3:48229940-48229951 chr3:48229940-48229951 chr3:48229941-48229956 chr3:48229943-48229951 chr3:48229941-48229952 chr3:48229937-48229954 chr3:48229940-48229951 chr3:48229935-48229950 chr3:48229922-48229931 chr3:48229944-48229951
23	MXI1	chr3:48228401-48230308	Hela-S3	cervix:	n/a	n/a
24	SP1	chr3:48229610-48230511	H1-hESC	embryonic stem cell:	n/a	chr3:48229921-48229931 chr3:48230009-48230030 chr3:48229921-48229931 chr3:48230179-48230186 chr3:48229921-48229930 chr3:48230073-48230085 chr3:48229921-48229935 chr3:48229920-48229932 chr3:48230073-48230084 chr3:48230075-48230084 chr3:48230073-48230085 chr3:48230074-48230083 chr3:48229920-48229932 chr3:48230070-48230084 chr3:48229922-48229931 chr3:48229921-48229930
25	SIN3A	chr3:48228763-48230494	GM12878	blood:	n/a	chr3:48230271-48230282 chr3:48229609-48229620 chr3:48229601-48229612
26	SIN3AK20	chr3:48229503-48230296	MCF-7	breast:	n/a	n/a
27	POLR2A	chr3:48229575-48230333	HCT-116	colon:	n/a	n/a
28	CREB1	chr3:48229606-48230475	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr3:48229033-48230299	K562	blood:	n/a	n/a
30	MYC	chr3:48229008-48230015	MCF-7	breast:	n/a	n/a
31	REST	chr3:48229216-48230465	HL-60	blood:	n/a	chr3:48229786-48229804 chr3:48229557-48229575 chr3:48229810-48229823 chr3:48229870-48229883
32	E2F6	chr3:48229498-48230394	H1-hESC	embryonic stem cell:	n/a	chr3:48229942-48229952 chr3:48229940-48229951 chr3:48229943-48229952 chr3:48229940-48229951 chr3:48229940-48229951 chr3:48229940-48229951 chr3:48229941-48229956 chr3:48229943-48229951 chr3:48229941-48229952 chr3:48229937-48229954 chr3:48229940-48229951 chr3:48229935-48229950 chr3:48229922-48229931 chr3:48229944-48229951
33	SIN3AK20	chr3:48228942-48230277	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOXM1	chr3:48229540-48230333	GM12878	blood:	n/a	n/a
35	E2F4	chr3:48229260-48230376	K562	blood:	n/a	chr3:48229942-48229952 chr3:48229940-48229951 chr3:48229943-48229952 chr3:48229940-48229951 chr3:48229940-48229951 chr3:48229940-48229951 chr3:48229941-48229956 chr3:48229943-48229951 chr3:48229941-48229952 chr3:48229937-48229954 chr3:48229940-48229951 chr3:48229935-48229950 chr3:48229922-48229931 chr3:48229944-48229951 chr3:48229339-48229347
36	TBP	chr3:48229236-48230488	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr3:48229109-48230451	GM12878	blood:	n/a	n/a
38	POLR2A	chr3:48229163-48230434	GM18526	blood:	n/a	n/a
39	TAF1	chr3:48229572-48230085	K562	blood:	n/a	n/a
40	RELA	chr3:48229590-48230424	GM19099	blood:	n/a	n/a
41	TCF12	chr3:48229529-48230310	ECC-1	luminal epithelium:	n/a	chr3:48229911-48229918 chr3:48229915-48229925 chr3:48229909-48229919
42	MXI1	chr3:48227977-48230692	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr3:48228939-48230041	K562	blood:	n/a	n/a
44	POLR2A	chr3:48228983-48230415	Hela-S3	cervix:	n/a	n/a
45	YY1	chr3:48229084-48230512	H1-hESC	embryonic stem cell:	n/a	chr3:48229579-48229590 chr3:48229579-48229593 chr3:48229688-48229702 chr3:48229922-48229931 chr3:48229438-48229447 chr3:48229578-48229589
46	E2F6	chr3:48229224-48230010	K562	blood:	n/a	chr3:48229942-48229952 chr3:48229940-48229951 chr3:48229943-48229952 chr3:48229940-48229951 chr3:48229940-48229951 chr3:48229940-48229951 chr3:48229941-48229956 chr3:48229943-48229951 chr3:48229941-48229952 chr3:48229937-48229954 chr3:48229940-48229951 chr3:48229935-48229950 chr3:48229922-48229931 chr3:48229944-48229951 chr3:48229339-48229347
47	ETS1	chr3:48229414-48230028	K562	blood:	n/a	n/a
48	TAF1	chr3:48229220-48230410	GM12878	blood:	n/a	n/a
49	TAF7	chr3:48229327-48230076	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr3:48229509-48230143	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48229618-48229668	PFSK-1	brain:	n/a
2	chr3:48229618-48229668	NT2-D1	testis:	n/a
3	chr3:48229618-48229668	Hepatocyte	liver:	n/a
4	chr3:48229618-48229668	SK-N-MC	brain:	n/a
5	chr3:48229618-48229668	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:48229618-48229668	NHDF-neo	bronchial:	n/a
7	chr3:48229618-48229668	H1-hESC	embryonic stem cell:	embryo
8	chr3:48229618-48229668	AG04449	skin:	fetal
9	chr3:48229618-48229668	MCF-7	breast:	n/a
10	chr3:48229618-48229668	HUVEC	blood vessel:	n/a
11	chr3:48229618-48229668	HCF	heart:	n/a
12	chr3:48229618-48229668	K562	blood:	n/a
13	chr3:48229618-48229668	GM06990	blood:	n/a
14	chr3:48229618-48229668	SKMC	muscle:	n/a
15	chr3:48229618-48229668	NHBE	bronchial:	n/a
16	chr3:48229618-48229668	HNPCEpiC	eye:	n/a
17	chr3:48229618-48229668	LNCaP	prostate:	n/a
18	chr3:48229618-48229668	HCM	heart:	n/a
19	chr3:48229618-48229668	CMK	blood:	n/a
20	chr3:48229618-48229668	A549	lung:	n/a
21	chr3:48229618-48229668	NH-A	brain:	n/a
22	chr3:48229618-48229668	SK-N-SH_RA	brain:	n/a
23	chr3:48229618-48229668	HCT-116	colon:	n/a
24	chr3:48229618-48229668	HRE	kidney:	n/a
25	chr3:48229618-48229668	SAEC	small airway:	n/a
26	chr3:48229618-48229668	HEEpiC	esophagus:	n/a
27	chr3:48229618-48229668	HepG2	liver:	n/a
28	chr3:48229618-48229668	AG04450	lung:	fetal
29	chr3:48229618-48229668	HEK293	kidney:	embryo
30	chr3:48229618-48229668	AoSMC	blood vessel:	n/a
31	chr3:48229618-48229668	HL-60	blood:	n/a
32	chr3:48229618-48229668	Caco-2	colon:	n/a
33	chr3:48229618-48229668	T-47D	breast:	n/a
34	chr3:48229618-48229668	BE2_C	brain:	n/a
35	chr3:48229618-48229668	AG09309	skin:	n/a
36	chr3:48229618-48229668	HCPEpiC	choroid plexus:	n/a
37	chr3:48229618-48229668	RPTEC	kidney:	n/a
38	chr3:48229618-48229668	ECC-1	luminal epithelium:	n/a
39	chr3:48229618-48229668	PANC-1	pancreas:	n/a
40	chr3:48229618-48229668	IMR90	lung:	fetal
41	chr3:48229618-48229668	MCF10A-Er-Src	breast:	n/a
42	chr3:48229618-48229668	PrEC	prostate:	n/a
43	chr3:48229618-48229668	NB4	blood:	n/a
44	chr3:48229618-48229668	U87	brain:	n/a
45	chr3:48229618-48229668	HAEpiC	amniotic membrane:	n/a
46	chr3:48229618-48229668	Hela-S3	cervix:	n/a
47	chr3:48229618-48229668	BJ	skin:	n/a
48	chr3:48229618-48229668	ProgFib	skin:	n/a
49	chr3:48229618-48229668	GM12878	blood:	n/a
50	chr3:48229618-48229668	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:30326729..30327557-chr3:48229243..48229980,2	Hela-S3	cervix:
2	chr3:48229537..48230348-chr7:152372608..152373273,2	Hela-S3	cervix:
3	chr3:48226160..48232247-chr3:48279704..48285684,8	K562	blood:
4	chr12:69326579..69327296-chr3:48229473..48230236,2	Hela-S3	cervix:
5	chr3:48228556..48231473-chr3:48592024..48594297,2	K562	blood:
6	chr3:48227952..48231564-chr3:48487479..48489526,3	K562	blood:
7	chr3:48129161..48131606-chr3:48228200..48230674,2	MCF-7	breast:
8	chr3:48227952..48230127-chr3:48487566..48489526,2	K562	blood:
9	chr3:48218514..48223617-chr3:48225606..48230757,7	MCF-7	breast:
10	chr3:48229438..48230015-chrX:38663073..38664029,2	Hela-S3	cervix:
11	chr3:48228981..48231650-chr3:48479872..48482975,4	K562	blood:
12	chr3:48200857..48202800-chr3:48228103..48229714,2	MCF-7	breast:
13	chr3:48228787..48232242-chr3:48236568..48239852,3	K562	blood:
14	chr3:48228367..48230257-chr3:48281144..48282657,2	MCF-7	breast:
15	chr3:48228981..48231519-chr3:48480145..48483056,4	K562	blood:
16	chr20:32699821..32700328-chr3:48229588..48230155,2	Hela-S3	cervix:
17	chr3:48219782..48224814-chr3:48228245..48230574,5	MCF-7	breast:
18	chr2:43453393..43454162-chr3:48229441..48229991,2	Hela-S3	cervix:
19	chr3:48228234..48229903-chr3:48593105..48594708,2	K562	blood:
20	chr3:47866553..47869509-chr3:48227817..48230002,2	K562	blood:

Variant related genes	Relation type
CDC25A	TF binding region
CDC25A	CpG island
ENSG00000164048	Chromatin interaction
ENSG00000244380	Chromatin interaction
ENSG00000047849	Chromatin interaction
ENSG00000088325	Chromatin interaction
ENSG00000235627	Chromatin interaction
ENSG00000152518	Chromatin interaction
ENSG00000238123	Chromatin interaction
ENSG00000231884	Chromatin interaction
ENSG00000132153	Chromatin interaction
ENSG00000164053	Chromatin interaction
ENSG00000196584	Chromatin interaction
ENSG00000114268	Chromatin interaction
ENSG00000135678	Chromatin interaction
ENSG00000265483	Chromatin interaction
ENSG00000164051	Chromatin interaction
ENSG00000125977	Chromatin interaction
ENSG00000232112	Chromatin interaction
ENSG00000253056	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 37 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs11130164	0.82[EUR][1000 genomes]
rs11706221	0.81[EUR][1000 genomes]
rs11706277	0.83[EUR][1000 genomes]
rs11707606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707997	0.81[EUR][1000 genomes]
rs11709691	0.86[EUR][1000 genomes]
rs11710257	0.81[EUR][1000 genomes]
rs11710861	0.86[EUR][1000 genomes]
rs11714176	0.83[EUR][1000 genomes]
rs11714944	0.81[EUR][1000 genomes]
rs11715799	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11716371	0.81[EUR][1000 genomes]
rs11716848	0.81[EUR][1000 genomes]
rs11717716	0.81[EUR][1000 genomes]
rs11718329	0.86[EUR][1000 genomes]
rs11718350	0.83[EUR][1000 genomes]
rs11719365	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11928691	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13059037	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13060020	0.81[EUR][1000 genomes]
rs13061269	0.81[EUR][1000 genomes]
rs13066044	0.81[EUR][1000 genomes]
rs13066758	0.84[EUR][1000 genomes]
rs13067450	0.84[EUR][1000 genomes]
rs13068265	0.86[EUR][1000 genomes]
rs13069029	0.83[EUR][1000 genomes]
rs13070210	0.83[EUR][1000 genomes]
rs13071960	0.82[EUR][1000 genomes]
rs13072018	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13079728	0.84[EUR][1000 genomes]
rs13081169	0.83[EUR][1000 genomes]
rs13081633	0.83[EUR][1000 genomes]
rs13082158	0.81[EUR][1000 genomes]
rs13082859	0.84[EUR][1000 genomes]
rs13084616	0.84[EUR][1000 genomes]
rs13085251	0.84[EUR][1000 genomes]
rs13087929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13090538	0.82[EUR][1000 genomes]
rs13094727	0.86[EUR][1000 genomes]
rs13095983	0.83[EUR][1000 genomes]
rs13097450	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13099560	0.85[EUR][1000 genomes]
rs13100815	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17647717	0.85[EUR][1000 genomes]
rs17786132	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2125482	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2361685	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2541	0.84[EUR][1000 genomes]
rs3197223	0.84[EUR][1000 genomes]
rs34076262	0.82[EUR][1000 genomes]
rs34225441	0.83[EUR][1000 genomes]
rs34513961	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34523942	0.84[EUR][1000 genomes]
rs34589064	0.84[EUR][1000 genomes]
rs34630841	0.84[EUR][1000 genomes]
rs34728236	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34749846	0.84[EUR][1000 genomes]
rs34946886	0.84[EUR][1000 genomes]
rs35190747	0.84[EUR][1000 genomes]
rs35297395	0.84[EUR][1000 genomes]
rs35411187	0.83[EUR][1000 genomes]
rs35414021	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35456569	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35778847	0.84[EUR][1000 genomes]
rs35802497	0.84[EUR][1000 genomes]
rs35942721	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35944878	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36020562	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36064160	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36075665	0.84[EUR][1000 genomes]
rs36092070	0.86[EUR][1000 genomes]
rs36121690	0.84[EUR][1000 genomes]
rs3729577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731497	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731534	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731550	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3937	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4130522	0.83[EUR][1000 genomes]
rs4131361	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4131362	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4371540	0.83[EUR][1000 genomes]
rs4392440	0.84[EUR][1000 genomes]
rs4420898	0.81[EUR][1000 genomes]
rs4479622	0.84[EUR][1000 genomes]
rs4511915	0.84[EUR][1000 genomes]
rs4511916	0.84[EUR][1000 genomes]
rs4541431	0.82[EUR][1000 genomes]
rs4619808	0.82[EUR][1000 genomes]
rs4632568	0.82[EUR][1000 genomes]
rs6442111	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6775179	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6782166	0.83[EUR][1000 genomes]
rs6791930	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6793150	0.83[EUR][1000 genomes]
rs6793223	0.82[EUR][1000 genomes]
rs6793239	0.83[EUR][1000 genomes]
rs6794644	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6796343	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6796490	0.85[EUR][1000 genomes]
rs6800492	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6801801	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6804986	0.82[EUR][1000 genomes]
rs71323391	0.84[EUR][1000 genomes]
rs71323394	0.83[EUR][1000 genomes]
rs71323395	0.81[EUR][1000 genomes]
rs71323396	0.81[EUR][1000 genomes]
rs71323397	0.81[EUR][1000 genomes]
rs745116	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7614532	0.83[EUR][1000 genomes]
rs7621785	0.84[EUR][1000 genomes]
rs7624450	0.84[EUR][1000 genomes]
rs7632297	0.83[EUR][1000 genomes]
rs7636461	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7645425	0.82[EUR][1000 genomes]
rs7647817	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648720	0.85[EUR][1000 genomes]
rs7652233	0.82[EUR][1000 genomes]
rs7653152	0.81[EUR][1000 genomes]
rs7653336	0.82[EUR][1000 genomes]
rs9311421	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs936426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs936427	0.86[EUR][1000 genomes]
rs9818937	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9819094	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9825637	0.82[EUR][1000 genomes]
rs9830016	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9831531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833309	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9834095	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9837228	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9847953	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9850672	0.86[EUR][1000 genomes]
rs9853804	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9862131	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][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	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv3408723	chr3:48228173-48230921	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:37)

SNP	Gene	Cis/trans	Tissue	Source
rs3731487	NME6	cis	Skin Sun Exposed Lower leg	GTEx
rs3731487	CDC25A	cis	Muscle Skeletal	GTEx
rs3731487	MRPS18AP1	cis	Esophagus Mucosa	GTEx
rs3731487	ZNF589	cis	Artery Aorta	GTEx
rs3731487	FCF1P2	cis	Artery Tibial	GTEx
rs3731487	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs3731487	MRPS18AP1	cis	Nerve Tibial	GTEx
rs3731487	ZNF589	cis	Adipose Subcutaneous	GTEx
rs3731487	NME6	cis	Muscle Skeletal	GTEx
rs3731487	NME6	cis	Artery Tibial	GTEx
rs3731487	MRPS18AP1	cis	Thyroid	GTEx
rs3731487	ZNF589	cis	Esophagus Mucosa	GTEx
rs3731487	MRPS18AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs3731487	ZNF589	cis	Nerve Tibial	GTEx
rs3731487	MRPS18AP1	cis	Artery Tibial	GTEx
rs3731487	MRPS18AP1	cis	lung	GTEx
rs3731487	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs3731487	ZNF589	cis	Skin Sun Exposed Lower leg	GTEx
rs3731487	CDC25A	cis	Thyroid	GTEx
rs3731487	ZNF589	cis	Esophagus Muscularis	GTEx
rs3731487	NME6	cis	multi-tissue	Pritchard
rs3731487	NME6	Cis_1M	lymphoblastoid	RTeQTL
rs3731487	ZNF589	cis	lung	GTEx
rs3731487	SPINK8	cis	Whole Blood	GTEx
rs3731487	CDC25A	cis	Artery Tibial	GTEx
rs3731487	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs3731487	ZNF589	Cis_1M	lymphoblastoid	RTeQTL
rs3731487	MRPS18AP1	cis	Artery Aorta	GTEx
rs3731487	NME6	cis	Nerve Tibial	GTEx
rs3731487	ZNF589	cis	Thyroid	GTEx
rs3731487	MRPS18AP1	cis	Stomach	GTEx
rs3731487	MRPS18AP1	cis	Adipose Subcutaneous	GTEx
rs3731487	ZNF589	cis	Artery Tibial	GTEx
rs3731487	ZNF589	cis	Stomach	GTEx
rs3731487	CDC25A	cis	Adipose Subcutaneous	GTEx
rs3731487	NME6	cis	Esophagus Muscularis	GTEx
rs3731487	MRPS18AP1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48228000-48230200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr3:48228000-48230200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:48228000-48230600	Active TSS	A549	lung
4	chr3:48228200-48230200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:48228200-48230200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:48228200-48230400	Active TSS	NHDF-Ad	bronchial
7	chr3:48228400-48229800	Flanking Active TSS	Colonic Mucosa	Colon
8	chr3:48228400-48230000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:48228400-48230000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:48228400-48230200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr3:48228400-48230200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr3:48228400-48230200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr3:48228400-48230400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr3:48228400-48230400	Active TSS	Gastric	stomach
15	chr3:48228400-48230600	Active TSS	Rectal Smooth Muscle	rectum
16	chr3:48228600-48229800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr3:48228600-48230000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:48228600-48230000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:48228600-48230200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:48228600-48230200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:48228600-48230200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:48228600-48230200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr3:48228600-48230200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:48228600-48230200	Active TSS	Brain Cingulate Gyrus	brain
25	chr3:48228600-48230200	Active TSS	GM12878-XiMat	blood
26	chr3:48228600-48230200	Active TSS	Hela-S3	cervix
27	chr3:48228600-48230200	Active TSS	HMEC	breast
28	chr3:48228600-48230400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr3:48228600-48230400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr3:48228600-48230400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr3:48228600-48230400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr3:48228600-48230400	Active TSS	HSMMtube	muscle
33	chr3:48228600-48230600	Active TSS	HSMM	muscle
34	chr3:48228600-48230800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:48228800-48230000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:48228800-48230000	Active TSS	Esophagus	oesophagus
37	chr3:48228800-48230000	Active TSS	Fetal Heart	heart
38	chr3:48228800-48230000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr3:48228800-48230200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:48228800-48230200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:48228800-48230200	Active TSS	Muscle Satellite Cultured Cells	--
42	chr3:48228800-48230200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:48228800-48230200	Active TSS	Fetal Intestine Large	intestine
44	chr3:48228800-48230400	Active TSS	Fetal Kidney	kidney
45	chr3:48228800-48230400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr3:48228800-48230400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr3:48228800-48230400	Active TSS	Right Atrium	heart
48	chr3:48228800-48230400	Active TSS	K562	blood
49	chr3:48228800-48230400	Active TSS	NHLF	lung
50	chr3:48228800-48230600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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