Variant report

Variant	rs6796343
Chromosome Location	chr3:48282021-48282022
allele	A/C
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	MYC	chr3:48281378-48282896	H1-hESC	embryonic stem cell:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
2	MYC	chr3:48281460-48282982	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
3	MAX	chr3:48281314-48282987	H1-hESC	embryonic stem cell:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
4	GATA3	chr3:48281963-48282239	SH-SY5Y	brain:	n/a	n/a
5	POLR2A	chr3:48281360-48283242	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr3:48281408-48282094	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr3:48281414-48282050	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr3:48281550-48282970	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
9	MYC	chr3:48281472-48283001	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
10	POU5F1	chr3:48281534-48282049	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr3:48281247-48283168	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr3:48281365-48282054	K562	blood:	n/a	n/a
13	TAF1	chr3:48281335-48282097	H1-hESC	embryonic stem cell:	n/a	n/a
14	KAP1	chr3:48281420-48282905	U2OS	brain:	n/a	n/a
15	SP1	chr3:48281553-48282053	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr3:48281642-48282818	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
17	ZNF143	chr3:48281737-48282908	H1-hESC	embryonic stem cell:	n/a	chr3:48282505-48282523
18	TBP	chr3:48281638-48282974	K562	blood:	n/a	n/a
19	MYC	chr3:48281593-48282846	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
20	HCFC1	chr3:48281705-48282910	K562	blood:	n/a	n/a
21	MYC	chr3:48281973-48282810	MCF10A-Er-Src	breast:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
22	E2F6	chr3:48281566-48282042	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr3:48281674-48282032	K562	blood:	n/a	chr3:48281825-48281837
24	USF1	chr3:48281585-48282021	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUN	chr3:48281089-48283127	K562	blood:	n/a	chr3:48282210-48282217
26	YY1	chr3:48281501-48282102	H1-hESC	embryonic stem cell:	n/a	chr3:48281825-48281837
27	E2F6	chr3:48281387-48282091	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr3:48281530-48283607	K562	blood:	n/a	n/a
29	YY1	chr3:48281607-48282060	NT2-D1	testis:	n/a	chr3:48281825-48281837
30	ARID3A	chr3:48281332-48282028	K562	blood:	n/a	n/a
31	E2F6	chr3:48281649-48282026	K562	blood:	n/a	n/a
32	MXI1	chr3:48281657-48282210	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr3:48281585-48282037	K562	blood:	n/a	n/a
34	MYC	chr3:48281449-48283012	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
35	TBP	chr3:48281418-48282869	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr3:48281225-48283023	H1-hESC	embryonic stem cell:	n/a	n/a
37	IRF1	chr3:48281559-48282866	K562	blood:	n/a	n/a
38	E2F6	chr3:48281578-48282936	K562	blood:	n/a	chr3:48282760-48282769 chr3:48282751-48282761
39	MAX	chr3:48281504-48282951	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
40	E2F4	chr3:48281633-48282821	K562	blood:	n/a	chr3:48281866-48281877 chr3:48282760-48282769 chr3:48282751-48282761
41	POLR2A	chr3:48281477-48282027	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr3:48281653-48282893	H1-hESC	embryonic stem cell:	n/a	n/a
43	SP1	chr3:48281549-48282126	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr3:48281562-48282955	K562	blood:	n/a	n/a
45	CBX3	chr3:48281500-48282032	K562	blood:	n/a	n/a
46	YY1	chr3:48281374-48282132	H1-hESC	embryonic stem cell:	n/a	chr3:48281825-48281837
47	MAX	chr3:48281442-48282715	H1-hESC	embryonic stem cell:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
48	YY1	chr3:48281538-48282101	K562	blood:	n/a	chr3:48281825-48281837
49	MYC	chr3:48281534-48282873	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296

No.	Distal block	Cell Line	Cell type
1	chr3:48228367..48230257-chr3:48281144..48282657,2	MCF-7	breast:
2	chr3:48226160..48232247-chr3:48279704..48285684,8	K562	blood:
3	chr3:48281213..48283691-chr3:48469389..48472428,3	K562	blood:
4	chr3:48281295..48284269-chr3:48341390..48344515,3	MCF-7	breast:
5	chr3:48281039..48283392-chr3:48513120..48515828,2	K562	blood:
6	chr3:48280347..48282561-chr3:48591932..48593845,2	K562	blood:

Variant related genes	Relation type
ZNF589	TF binding region
ENSG00000164050	Chromatin interaction
ENSG00000172113	Chromatin interaction
ENSG00000164054	Chromatin interaction
ENSG00000164045	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 37 )

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs1045482	0.84[EUR][1000 genomes]
rs11130162	0.84[EUR][1000 genomes]
rs11130163	0.84[EUR][1000 genomes]
rs11130164	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11706221	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11706277	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11707606	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11707997	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11709691	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11710257	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11710861	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11714176	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11714944	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11715776	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11715799	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11715876	0.84[EUR][1000 genomes]
rs11716371	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11716848	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11717716	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11718329	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11718350	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11719365	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928691	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13059037	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13060020	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13061269	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13066044	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13066758	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13067450	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13068265	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13068288	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13069029	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13070210	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13071960	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13072018	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13079728	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13081169	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13081633	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13082158	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13082859	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13084616	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13085251	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13087929	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13090538	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13094727	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13095983	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13097450	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13100815	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17647717	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17786132	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2125482	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2361685	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2541	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3197223	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34076262	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34225441	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34523942	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34589064	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34630841	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34728236	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34749846	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34946886	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35190747	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35297395	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35297486	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35411187	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35414021	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35456569	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35778847	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35802497	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35944878	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36020562	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36064160	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36075665	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36092070	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36121690	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3729577	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731487	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731489	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731497	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731513	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731515	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731534	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731550	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731555	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3937	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4130522	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4131361	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4131362	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4371540	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4392440	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4404473	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4420898	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4479622	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4511915	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4511916	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4541431	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4619808	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4632568	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442110	0.84[EUR][1000 genomes]
rs6442111	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6775179	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6782166	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6787500	0.84[EUR][1000 genomes]
rs6791930	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6793150	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6793223	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6793239	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6794644	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6800492	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6801801	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6804986	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6806112	0.84[EUR][1000 genomes]
rs71323391	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71323394	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71323395	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71323396	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71323397	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs745116	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7614532	0.94[EUR][1000 genomes]
rs7621785	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7624450	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7632297	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7636461	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7644414	0.86[EUR][1000 genomes]
rs7645425	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7647817	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7648720	0.97[EUR][1000 genomes]
rs7652233	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7653152	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7653336	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9311421	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs936426	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs936427	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9818937	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9819094	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9825637	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9830016	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9831531	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9833309	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9834095	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9837228	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9847953	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9850672	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9853804	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9862131	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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

mRNA abundance (count:37)

SNP	Gene	Cis/trans	Tissue	Source
rs6796343	MRPS18AP1	cis	Thyroid	GTEx
rs6796343	MRPS18AP1	cis	lung	GTEx
rs6796343	MRPS18AP1	cis	Adipose Subcutaneous	GTEx
rs6796343	NME6	cis	Esophagus Muscularis	GTEx
rs6796343	CDC25A	cis	Muscle Skeletal	GTEx
rs6796343	NME6	cis	Artery Tibial	GTEx
rs6796343	CDC25A	cis	Adipose Subcutaneous	GTEx
rs6796343	CDC25A	cis	Thyroid	GTEx
rs6796343	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs6796343	NME6	Cis_1M	lymphoblastoid	RTeQTL
rs6796343	MRPS18AP1	cis	Nerve Tibial	GTEx
rs6796343	CDC25A	cis	Artery Tibial	GTEx
rs6796343	ZNF589	cis	Esophagus Muscularis	GTEx
rs6796343	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs6796343	ZNF589	cis	Stomach	GTEx
rs6796343	NME6	cis	multi-tissue	Pritchard
rs6796343	ZNF589	Cis_1M	lymphoblastoid	RTeQTL
rs6796343	SPINK8	cis	Whole Blood	GTEx
rs6796343	ZNF589	cis	Nerve Tibial	GTEx
rs6796343	NME6	cis	Nerve Tibial	GTEx
rs6796343	MRPS18AP1	cis	Esophagus Mucosa	GTEx
rs6796343	ZNF589	cis	lung	GTEx
rs6796343	MRPS18AP1	cis	Stomach	GTEx
rs6796343	MRPS18AP1	cis	Heart Left Ventricle	GTEx
rs6796343	ZNF589	cis	Adipose Subcutaneous	GTEx
rs6796343	NME6	cis	Skin Sun Exposed Lower leg	GTEx
rs6796343	MRPS18AP1	cis	Artery Tibial	GTEx
rs6796343	ZNF589	cis	Artery Tibial	GTEx
rs6796343	ZNF589	cis	Thyroid	GTEx
rs6796343	ZNF589	cis	Skin Sun Exposed Lower leg	GTEx
rs6796343	NME6	cis	Muscle Skeletal	GTEx
rs6796343	ZNF589	cis	Artery Aorta	GTEx
rs6796343	FCF1P2	cis	Artery Tibial	GTEx
rs6796343	ZNF589	cis	Esophagus Mucosa	GTEx
rs6796343	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs6796343	MRPS18AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs6796343	MRPS18AP1	cis	Artery Aorta	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48274000-48282400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:48274600-48282200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:48274600-48282200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:48274600-48282200	Weak transcription	Ovary	ovary
5	chr3:48275000-48282200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:48278000-48282200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:48278200-48282200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:48278200-48282400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:48278400-48282200	Weak transcription	Thymus	Thymus
10	chr3:48278400-48282200	Weak transcription	Spleen	Spleen
11	chr3:48278400-48282400	Weak transcription	Esophagus	oesophagus
12	chr3:48278600-48282200	Weak transcription	Fetal Lung	lung
13	chr3:48278600-48282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:48279000-48282200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:48279000-48282200	Weak transcription	Fetal Intestine Large	intestine
16	chr3:48279200-48282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:48279400-48282200	Weak transcription	NHDF-Ad	bronchial
18	chr3:48279800-48282200	Weak transcription	Placenta	Placenta
19	chr3:48280400-48282200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:48280600-48282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:48281000-48282200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr3:48281000-48282200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:48281000-48282200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:48281000-48282400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr3:48281200-48282200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:48281200-48282200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:48281200-48282400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:48281200-48282400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr3:48281400-48282200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr3:48281400-48282200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr3:48281400-48282200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:48281400-48282200	Enhancers	Primary B cells from cord blood	blood
33	chr3:48281400-48282400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:48281400-48282400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:48281400-48282400	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr3:48281400-48282600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:48281600-48282200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:48281600-48282200	Enhancers	Brain Angular Gyrus	brain
39	chr3:48281600-48282200	Enhancers	Brain Substantia Nigra	brain
40	chr3:48281600-48282200	Enhancers	Fetal Muscle Leg	muscle
41	chr3:48281600-48282400	Flanking Active TSS	K562	blood
42	chr3:48281800-48282200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:48281800-48282200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr3:48281800-48282200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:48281800-48282200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:48281800-48282200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:48281800-48282200	Enhancers	Right Atrium	heart
48	chr3:48281800-48282200	Enhancers	GM12878-XiMat	blood
49	chr3:48281800-48282200	Enhancers	HepG2	liver
50	chr3:48281800-48282200	Enhancers	NHEK	skin

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