Variant report

Variant	rs2012013
Chromosome Location	chr19:21541806-21541807
allele	C/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	POLR2A	chr19:21541696-21541950	SK-N-SH	brain:	n/a	n/a
2	TEAD4	chr19:21541626-21542221	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:21541702-21541957	K562	blood:	n/a	n/a
4	POLR2A	chr19:21541576-21542056	GM12892	blood:	n/a	n/a
5	TBP	chr19:21541525-21542279	H1-hESC	embryonic stem cell:	n/a	n/a
6	POU2F2	chr19:21541727-21541916	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:21541557-21542229	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr19:21541690-21541978	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:21541570-21542176	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:21541394-21542136	PFSK-1	brain:	n/a	n/a
11	FOS	chr19:21541554-21541911	GM12878	blood:	n/a	n/a
12	GABPA	chr19:21541517-21541949	K562	blood:	n/a	n/a
13	TAF1	chr19:21541634-21541945	K562	blood:	n/a	n/a
14	POLR2A	chr19:21541609-21542090	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr19:21541682-21541981	GM12892	blood:	n/a	n/a
16	PAX5	chr19:21541623-21541954	GM12878	blood:	n/a	n/a
17	MXI1	chr19:21541166-21542571	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr19:21541441-21542371	H1-neurons	neurons:	n/a	n/a
19	FOS	chr19:21541554-21541901	K562	blood:	n/a	n/a
20	TAF1	chr19:21541649-21542000	PFSK-1	brain:	n/a	n/a
21	NFYA	chr19:21541572-21541980	Hela-S3	cervix:	n/a	chr19:21541729-21541742 chr19:21541700-21541714 chr19:21541700-21541715 chr19:21541702-21541712 chr19:21541700-21541715 chr19:21541700-21541713
22	TAF1	chr19:21541539-21541953	SK-N-SH	brain:	n/a	n/a
23	GABPA	chr19:21541647-21541884	HepG2	liver:	n/a	n/a
24	NFYB	chr19:21541470-21541971	Hela-S3	cervix:	n/a	chr19:21541729-21541742 chr19:21541700-21541714 chr19:21541726-21541741 chr19:21541697-21541712 chr19:21541700-21541715 chr19:21541702-21541712 chr19:21541700-21541715 chr19:21541700-21541713
25	TAF1	chr19:21541538-21542229	GM12878	blood:	n/a	n/a
26	MAX	chr19:21541529-21542001	GM12878	blood:	n/a	n/a
27	CHD2	chr19:21541599-21541809	K562	blood:	n/a	n/a
28	HEY1	chr19:21541624-21542004	K562	blood:	n/a	n/a
29	NFYA	chr19:21541571-21541879	K562	blood:	n/a	chr19:21541729-21541742 chr19:21541700-21541714 chr19:21541700-21541715 chr19:21541702-21541712 chr19:21541700-21541715 chr19:21541700-21541713
30	YY1	chr19:21541497-21542393	SK-N-SH	brain:	n/a	chr19:21542102-21542112 chr19:21542103-21542111 chr19:21542116-21542130
31	CEBPB	chr19:21541453-21541975	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr19:21541587-21542268	GM12892	blood:	n/a	n/a
33	HEY1	chr19:21541460-21542061	HepG2	liver:	n/a	n/a
34	TBP	chr19:21541625-21541903	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr19:21541622-21542114	GM12891	blood:	n/a	n/a
36	SP1	chr19:21541398-21542058	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:21541620-21541974	HCT-116	colon:	n/a	n/a
38	POLR2A	chr19:21541540-21542123	GM12891	blood:	n/a	n/a
39	REST	chr19:21541624-21542211	H1-neurons	neurons:	n/a	chr19:21541726-21541735
40	POLR2A	chr19:21541740-21541872	K562	blood:	n/a	n/a
41	REST	chr19:21541645-21541982	H1-hESC	embryonic stem cell:	n/a	chr19:21541726-21541735
42	PBX3	chr19:21541469-21541996	SK-N-SH	brain:	n/a	chr19:21541664-21541673
43	POLR2A	chr19:21541604-21542060	MCF10A-Er-Src	breast:	n/a	n/a
44	PML	chr19:21541598-21541849	K562	blood:	n/a	n/a
45	POLR2A	chr19:21541605-21542074	GM12878	blood:	n/a	n/a
46	MAFK	chr19:21541733-21541966	H1-hESC	embryonic stem cell:	n/a	n/a
47	TBP	chr19:21541566-21542052	GM12878	blood:	n/a	n/a
48	IRF3	chr19:21541568-21541812	Hela-S3	cervix:	n/a	n/a
49	ELF1	chr19:21541479-21541981	K562	blood:	n/a	chr19:21541765-21541778 chr19:21541766-21541777 chr19:21541767-21541776
50	KAP1	chr19:21541495-21542211	HEK293	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21541756-21541806	NH-A	brain:	n/a
2	chr19:21541765-21541815	HAEpiC	amniotic membrane:	n/a
3	chr19:21541772-21541822	ECC-1	luminal epithelium:	n/a
4	chr19:21541765-21541815	HCPEpiC	choroid plexus:	n/a
5	chr19:21541756-21541806	RPTEC	kidney:	n/a
6	chr19:21541793-21541843	AoSMC	blood vessel:	n/a
7	chr19:21541793-21541843	AG09309	skin:	n/a
8	chr19:21541765-21541815	NHBE	bronchial:	n/a
9	chr19:21541772-21541822	HIPEpiC	eye:	n/a
10	chr19:21541793-21541843	NHDF-neo	bronchial:	n/a
11	chr19:21541793-21541843	GM19239	blood:	n/a
12	chr19:21541756-21541806	MCF10A-Er-Src	breast:	n/a
13	chr19:21541793-21541843	BE2_C	brain:	n/a
14	chr19:21541772-21541822	PFSK-1	brain:	n/a
15	chr19:21541756-21541806	HIPEpiC	eye:	n/a
16	chr19:21541793-21541843	T-47D	breast:	n/a
17	chr19:21541765-21541815	SAEC	small airway:	n/a
18	chr19:21541793-21541843	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:21541756-21541806	HRPEpiC	eye:	n/a
20	chr19:21541793-21541843	GM12891	blood:	n/a
21	chr19:21541772-21541822	T-47D	breast:	n/a
22	chr19:21541772-21541822	H1-hESC	embryonic stem cell:	embryo
23	chr19:21541793-21541843	PFSK-1	brain:	n/a
24	chr19:21541756-21541806	AG09309	skin:	n/a
25	chr19:21541765-21541815	AG10803	skin:	n/a
26	chr19:21541756-21541806	HEEpiC	esophagus:	n/a
27	chr19:21541756-21541806	Hepatocyte	liver:	n/a
28	chr19:21541772-21541822	HepG2	liver:	n/a
29	chr19:21541772-21541822	HNPCEpiC	eye:	n/a
30	chr19:21541793-21541843	HCT-116	colon:	n/a
31	chr19:21541772-21541822	HMEC	breast:	n/a
32	chr19:21541756-21541806	Hela-S3	cervix:	n/a
33	chr19:21541765-21541815	NB4	blood:	n/a
34	chr19:21541756-21541806	ECC-1	luminal epithelium:	n/a
35	chr19:21541793-21541843	HRE	kidney:	n/a
36	chr19:21541772-21541822	U87	brain:	n/a
37	chr19:21541756-21541806	GM06990	blood:	n/a
38	chr19:21541765-21541815	HNPCEpiC	eye:	n/a
39	chr19:21541765-21541815	PFSK-1	brain:	n/a
40	chr19:21541756-21541806	Jurkat	blood:	n/a
41	chr19:21541772-21541822	SK-N-SH_RA	brain:	n/a
42	chr19:21541793-21541843	HRCEpiC	kidney:	n/a
43	chr19:21541772-21541822	GM12891	blood:	n/a
44	chr19:21541772-21541822	NT2-D1	testis:	n/a
45	chr19:21541793-21541843	HCF	heart:	n/a
46	chr19:21541765-21541815	GM19239	blood:	n/a
47	chr19:21541756-21541806	T-47D	breast:	n/a
48	chr19:21541772-21541822	MCF10A-Er-Src	breast:	n/a
49	chr19:21541765-21541815	NHDF-neo	bronchial:	n/a
50	chr19:21541772-21541822	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21324747..21325334-chr19:21541551..21542092,2	Hela-S3	cervix:
2	chr19:21264733..21265247-chr19:21541544..21542206,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF738-1	chr19:21541735-21541945	NR_027130

Variant related genes	Relation type
ZNF738	TF binding region
ZNF738	CpG island
ENSG00000196705	Chromatin interaction
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 176 )
Associated
traits (count: 38 )

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10405716	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1055753	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10854043	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11085441	0.81[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.91[EUR][1000 genomes]
rs11085443	0.91[ASN][1000 genomes]
rs11085447	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1142653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11667770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11668691	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11669043	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11669588	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11671265	0.82[AMR][1000 genomes]
rs11673304	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11673406	0.81[ASN][1000 genomes]
rs11882553	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12459702	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12461384	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12462022	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12610331	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12971736	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12972339	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12972580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12972601	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12974735	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12975081	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[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];0.99[ASN][1000 genomes]
rs12975464	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12978116	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12979646	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12980097	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12981564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12981735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12981775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12981777	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12982162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12982282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12982346	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12983426	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12983787	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12984300	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12984871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1401926	0.83[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap]
rs17680671	0.89[CEU][hapmap]
rs1781863	0.85[ASN][1000 genomes]
rs1781873	0.82[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1813234	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs1932088	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1963531	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1963532	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976384	0.95[ASN][1000 genomes]
rs2012038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061917	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061918	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2061919	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2086317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2086318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2086320	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2088762	0.94[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];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2102072	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2127404	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127408	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2133819	0.86[ASN][1000 genomes]
rs2133822	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2170024	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2170025	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2173728	0.82[ASN][1000 genomes]
rs2219840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358982	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358984	0.94[CHB][hapmap];0.93[ASN][1000 genomes]
rs2358985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358986	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358988	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358989	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2358990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358991	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2358992	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2434997	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2562456	0.81[JPT][hapmap]
rs2650774	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2650810	0.82[ASN][1000 genomes]
rs2650845	0.94[CHB][hapmap];0.98[CHD][hapmap];0.83[ASN][1000 genomes]
rs2650847	0.83[ASN][1000 genomes]
rs28688205	0.91[EUR][1000 genomes]
rs2884601	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2914629	0.82[ASN][1000 genomes]
rs2914638	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2928208	0.93[ASN][1000 genomes]
rs2968025	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35580411	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35773446	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4315457	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4341872	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs4398213	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4430876	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4438422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4461198	0.83[ASN][1000 genomes]
rs4525621	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4566304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4621113	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs627522	0.81[JPT][hapmap]
rs6511222	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6511228	0.92[ASN][1000 genomes]
rs6511229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6511231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511233	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511237	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6511238	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511242	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511245	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511246	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7245729	0.82[AMR][1000 genomes]
rs7245920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247411	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7248601	0.91[CEU][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7248989	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7249412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7249636	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs7252254	0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs7252261	0.94[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];1.00[MEX][hapmap];1.00[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];0.98[ASN][1000 genomes]
rs7252873	0.92[ASN][1000 genomes]
rs7253178	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253886	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7254059	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7254436	1.00[CEU][hapmap]
rs7254762	1.00[CEU][hapmap]
rs7256361	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7257580	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7257857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7258086	0.93[ASN][1000 genomes]
rs7258335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7259311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7260369	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7508030	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7508044	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7508045	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7508072	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7508087	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7508092	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7508104	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7508671	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8099940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8101089	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs8102328	0.93[ASN][1000 genomes]
rs8102342	0.90[ASN][1000 genomes]
rs8103325	0.94[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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103411	0.82[EUR][1000 genomes]
rs8103459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8104017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106936	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8107999	0.89[CEU][hapmap]
rs8110690	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8110814	0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs8110842	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8110967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111549	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8112059	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8112583	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924487	0.85[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]
rs951162	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription 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 target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers 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 target site	35 gene(s)	inside rSNPs	diseases
7	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers 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 target site	31 gene(s)	inside rSNPs	diseases
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:38)

SNP	Gene	Cis/trans	Tissue	Source
rs2012013	ZNF738	cis	parietal	SCAN
rs2012013	ZNF626	cis	lymphoblastoid	seeQTL
rs2012013	ZNF429	cis	Muscle Skeletal	GTEx
rs2012013	LINC00664	cis	Adipose Subcutaneous	GTEx
rs2012013	CTD-2561J22.5	cis	Stomach	GTEx
rs2012013	CTD-2561J22.5	cis	Thyroid	GTEx
rs2012013	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs2012013	LOC115648	cis	uninvolved skin	skin_eQTL
rs2012013	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs2012013	ZNF493	cis	cerebellum	SCAN
rs2012013	ZNF429	cis	cerebellum	SCAN
rs2012013	ZNF429	cis	Whole Blood	GTEx
rs2012013	ZNF493	cis	Lymphoblastoid	GTEx
rs2012013	RP11-420K14.3	cis	Whole Blood	GTEx
rs2012013	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs2012013	RP11-678G14.2	cis	Whole Blood	GTEx
rs2012013	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs2012013	RP11-678G14.2	cis	Artery Tibial	GTEx
rs2012013	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs2012013	CTD-2561J22.5	cis	Artery Tibial	GTEx
rs2012013	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs2012013	ZNF208	cis	parietal	SCAN
rs2012013	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs2012013	ZNF708	cis	cerebellum	SCAN
rs2012013	RP11-678G14.2	cis	Thyroid	GTEx
rs2012013	RP11-678G14.2	cis	Nerve Tibial	GTEx
rs2012013	RP11-678G14.3	cis	lung	GTEx
rs2012013	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs2012013	RP11-678G14.3	cis	Whole Blood	GTEx
rs2012013	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2012013	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs2012013	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs2012013	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs2012013	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs2012013	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs2012013	ZNF493	cis	multi-tissue	Pritchard
rs2012013	RP11-678G14.2	cis	lung	GTEx
rs2012013	CTD-2561J22.5	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21541200-21543000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:21541400-21542000	Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr19:21541400-21542200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:21541400-21542400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
5	chr19:21541400-21542400	Active TSS	Brain Substantia Nigra	brain
6	chr19:21541400-21542400	Active TSS	Colon Smooth Muscle	Colon
7	chr19:21541400-21542400	Active TSS	Fetal Muscle Trunk	muscle
8	chr19:21541400-21542400	Active TSS	A549	lung
9	chr19:21541400-21542600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:21541400-21542600	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr19:21541400-21542600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr19:21541400-21542600	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr19:21541400-21542600	Active TSS	Brain Anterior Caudate	brain
14	chr19:21541400-21542600	Active TSS	Brain Hippocampus Middle	brain
15	chr19:21541400-21542600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr19:21541400-21542600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:21541400-21542600	Active TSS	Rectal Smooth Muscle	rectum
18	chr19:21541400-21542600	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr19:21541400-21542600	Active TSS	Stomach Smooth Muscle	stomach
20	chr19:21541400-21542600	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr19:21541400-21542800	Active TSS	Primary T cells from cord blood	blood
22	chr19:21541400-21542800	Active TSS	Primary hematopoietic stem cells	blood
23	chr19:21541400-21542800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:21541400-21542800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:21541400-21542800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr19:21541400-21542800	Active TSS	Fetal Brain Male	brain
27	chr19:21541400-21542800	Active TSS	Fetal Intestine Large	intestine
28	chr19:21541400-21542800	Active TSS	Fetal Intestine Small	intestine
29	chr19:21541400-21542800	Active TSS	Ovary	ovary
30	chr19:21541400-21542800	Active TSS	HSMMtube	muscle
31	chr19:21541400-21543000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:21541400-21543000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:21541400-21543000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:21541400-21543000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:21541400-21543000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:21541400-21543000	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr19:21541400-21543000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:21541400-21543000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr19:21541400-21543000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:21541400-21543000	Active TSS	Duodenum Mucosa	Duodenum
41	chr19:21541400-21543000	Active TSS	Thymus	Thymus
42	chr19:21541400-21543000	Active TSS	HUVEC	blood vessel
43	chr19:21541400-21543000	Active TSS	NHDF-Ad	bronchial
44	chr19:21541400-21543000	Active TSS	NHLF	lung
45	chr19:21541400-21543200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr19:21541400-21543200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:21541400-21543200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:21541400-21543200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr19:21541400-21543200	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr19:21541400-21543200	Active TSS	Fetal Kidney	kidney

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