Variant report

Variant	rs3825182
Chromosome Location	chr12:49319484-49319485
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	CTCF	chr12:49319400-49319550	GM06990	blood:	n/a	n/a
2	POLR2A	chr12:49318295-49319719	GM12892	blood:	n/a	n/a
3	STAT5A	chr12:49319315-49319755	GM12878	blood:	n/a	n/a
4	RUNX3	chr12:49318943-49319509	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:49318179-49319816	GM12892	blood:	n/a	n/a
6	RELA	chr12:49318165-49319537	GM19193	blood:	n/a	chr12:49318256-49318265 chr12:49318256-49318265
7	POLR2A	chr12:49318846-49319518	ProgFib	skin:	n/a	n/a
8	ZBTB7A	chr12:49318276-49319617	ECC-1	luminal epithelium:	n/a	n/a
9	TAF1	chr12:49318407-49319544	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:49318294-49319845	MCF-7	breast:	n/a	n/a
11	STAT1	chr12:49319096-49319544	GM12878	blood:	n/a	n/a
12	NR3C1	chr12:49318940-49319719	A549	lung:	n/a	chr12:49319684-49319691 chr12:49319219-49319232
13	ATF2	chr12:49319216-49319750	H1-hESC	embryonic stem cell:	n/a	n/a
14	NFATC1	chr12:49318987-49319676	GM12878	blood:	n/a	n/a
15	EBF1	chr12:49319208-49319553	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:49318723-49319592	PFSK-1	brain:	n/a	n/a
17	POU2F2	chr12:49319102-49319489	GM12878	blood:	n/a	n/a
18	MAX	chr12:49318264-49319714	A549	lung:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704
19	MXI1	chr12:49319459-49319699	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:49318808-49319621	HL-60	blood:	n/a	n/a
21	POLR2A	chr12:49318491-49319551	GM10847	blood:	n/a	n/a
22	POLR2A	chr12:49318182-49319869	GM12892	blood:	n/a	n/a
23	FOXM1	chr12:49318829-49319666	GM12878	blood:	n/a	n/a
24	SIN3A	chr12:49318365-49319780	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:49318390-49319574	GM15510	blood:	n/a	n/a
26	STAT5A	chr12:49318066-49319746	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:49318783-49319618	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr12:49318815-49319528	MCF-7	breast:	n/a	n/a
29	CHD2	chr12:49318448-49319687	GM12878	blood:	n/a	n/a
30	TAF1	chr12:49319110-49319486	GM12878	blood:	n/a	n/a
31	FOXM1	chr12:49318349-49319560	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:49317828-49319985	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:49318352-49319741	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:49318419-49319559	GM18526	blood:	n/a	n/a
35	ATF2	chr12:49318910-49319625	GM12878	blood:	n/a	n/a
36	CTCF	chr12:49319306-49319489	GM19240	blood:	n/a	n/a
37	POLR2A	chr12:49318270-49319815	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:49318287-49319692	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:49318272-49319694	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr12:49318878-49319485	U87	brain:	n/a	n/a
41	MAX	chr12:49318272-49319752	H1-hESC	embryonic stem cell:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704
42	CREB1	chr12:49318409-49319687	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:49318366-49319579	GM19193	blood:	n/a	n/a
44	POLR2A	chr12:49318796-49319832	GM12891	blood:	n/a	n/a
45	POLR2A	chr12:49318406-49319536	GM12891	blood:	n/a	n/a
46	POLR2A	chr12:49319093-49319496	GM12891	blood:	n/a	n/a
47	BCL3	chr12:49318435-49319676	A549	lung:	n/a	n/a
48	BCL3	chr12:49318891-49319491	GM12878	blood:	n/a	n/a
49	BHLHE40	chr12:49319264-49319612	GM12878	blood:	n/a	n/a
50	MYC	chr12:49318177-49319865	A549	lung:	n/a	chr12:49318695-49318702 chr12:49318745-49318754 chr12:49318693-49318704 chr12:49318693-49318703 chr12:49318694-49318703 chr12:49318690-49318705 chr12:49318693-49318704 chr12:49318743-49318756 chr12:49318694-49318703 chr12:49318744-49318755 chr12:49318692-49318705 chr12:49318694-49318704

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49319475-49319525	Jurkat	blood:	n/a
2	chr12:49319475-49319525	Hela-S3	cervix:	n/a
3	chr12:49319453-49319503	CMK	blood:	n/a
4	chr12:49319475-49319525	IMR90	lung:	fetal
5	chr12:49319453-49319503	HepG2	liver:	n/a
6	chr12:49319475-49319525	PrEC	prostate:	n/a
7	chr12:49319453-49319503	HRE	kidney:	n/a
8	chr12:49319453-49319503	HCF	heart:	n/a
9	chr12:49319475-49319525	NHBE	bronchial:	n/a
10	chr12:49319475-49319525	CMK	blood:	n/a
11	chr12:49319475-49319525	Hepatocyte	liver:	n/a
12	chr12:49319475-49319525	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:49319475-49319525	HCT-116	colon:	n/a
14	chr12:49319453-49319503	HUVEC	blood vessel:	n/a
15	chr12:49319453-49319503	BE2_C	brain:	n/a
16	chr12:49319475-49319525	U87	brain:	n/a
17	chr12:49319453-49319503	AoSMC	blood vessel:	n/a
18	chr12:49319475-49319525	MCF-7	breast:	n/a
19	chr12:49319453-49319503	HCM	heart:	n/a
20	chr12:49319475-49319525	A549	lung:	n/a
21	chr12:49319453-49319503	PANC-1	pancreas:	n/a
22	chr12:49319453-49319503	PFSK-1	brain:	n/a
23	chr12:49319453-49319503	MCF-7	breast:	n/a
24	chr12:49319475-49319525	HEK293	kidney:	embryo
25	chr12:49319475-49319525	HCF	heart:	n/a
26	chr12:49319453-49319503	NB4	blood:	n/a
27	chr12:49319453-49319503	A549	lung:	n/a
28	chr12:49319475-49319525	SKMC	muscle:	n/a
29	chr12:49319475-49319525	HCM	heart:	n/a
30	chr12:49319453-49319503	GM12892	blood:	n/a
31	chr12:49319453-49319503	HRPEpiC	eye:	n/a
32	chr12:49319475-49319525	LNCaP	prostate:	n/a
33	chr12:49319453-49319503	T-47D	breast:	n/a
34	chr12:49319475-49319525	HAEpiC	amniotic membrane:	n/a
35	chr12:49319475-49319525	HIPEpiC	eye:	n/a
36	chr12:49319453-49319503	HEEpiC	esophagus:	n/a
37	chr12:49319475-49319525	AG09319	gingival:	n/a
38	chr12:49319453-49319503	NT2-D1	testis:	n/a
39	chr12:49319475-49319525	GM12878	blood:	n/a
40	chr12:49319453-49319503	HMEC	breast:	n/a
41	chr12:49319453-49319503	Jurkat	blood:	n/a
42	chr12:49319475-49319525	BE2_C	brain:	n/a
43	chr12:49319475-49319525	NB4	blood:	n/a
44	chr12:49319453-49319503	AG04449	skin:	fetal
45	chr12:49319453-49319503	K562	blood:	n/a
46	chr12:49319453-49319503	U87	brain:	n/a
47	chr12:49319475-49319525	AG09309	skin:	n/a
48	chr12:49319453-49319503	SK-N-SH_RA	brain:	n/a
49	chr12:49319453-49319503	HCT-116	colon:	n/a
50	chr12:49319475-49319525	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49319039..49321186-chr12:49348048..49350961,2	MCF-7	breast:
2	chr12:49318968..49320565-chr12:49363213..49364979,2	MCF-7	breast:
3	chr12:49316917..49319846-chr12:49321799..49325494,4	K562	blood:
4	chr12:49317412..49320697-chr12:49349793..49352537,4	MCF-7	breast:
5	chr12:49318409..49320473-chr12:49386787..49389154,2	MCF-7	breast:
6	chr12:49257454..49260772-chr12:49317154..49320539,3	MCF-7	breast:
7	chr12:49245963..49247751-chr12:49317835..49320703,2	MCF-7	breast:

Variant related genes	Relation type
FKBP11	TF binding region
FKBP11	CpG island
ENSG00000201678	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000169884	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000174243	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1051886	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1054376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747556	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747558	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783289	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10783290	0.92[ASN][1000 genomes]
rs10783292	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783293	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10783294	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783295	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783297	0.93[ASN][1000 genomes]
rs10875883	0.83[CHB][hapmap];0.89[CHD][hapmap]
rs10875885	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs10875886	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10875888	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875894	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875895	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875896	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875897	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875898	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875900	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875901	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875902	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1111662	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs11168779	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168783	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168785	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168790	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168795	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168797	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168798	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168800	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168801	0.86[ASN][1000 genomes]
rs11168803	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168811	0.82[ASN][1000 genomes]
rs11168812	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11608916	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610459	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11610497	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11614474	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12227240	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228521	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12229275	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423542	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12579249	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1318692	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1690182	0.91[ASN][1000 genomes]
rs1818996	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1830192	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2030900	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070940	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2073480	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2131713	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2272311	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2272312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293449	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2368701	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2453063	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2463175	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2641450	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2694839	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2694840	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3741627	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782353	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3809147	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825184	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs4018510	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4237854	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4433614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4526804	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760600	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760647	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4760661	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760662	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4760663	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760664	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760665	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760666	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760667	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4760668	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58023472	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59087236	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61941142	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61942166	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942167	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61942169	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942207	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942209	0.83[ASN][1000 genomes]
rs6580696	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7134686	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7297958	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7298330	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304942	0.99[ASN][1000 genomes]
rs7313988	0.92[ASN][1000 genomes]
rs7489036	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963018	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963160	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976473	0.87[ASN][1000 genomes]
rs833820	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs833821	0.91[ASN][1000 genomes]
rs833822	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs833827	0.92[ASN][1000 genomes]
rs833828	0.90[ASN][1000 genomes]
rs833839	0.85[ASN][1000 genomes]
rs833840	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs833841	0.86[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs833842	0.84[ASN][1000 genomes]
rs833843	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs961320	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9645813	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9783452	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9783477	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9788029	0.97[ASN][1000 genomes]
rs9795742	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9796008	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3825182	DDX23	cis	parietal	SCAN
rs3825182	FKBP11	cis	cerebellum	SCAN
rs3825182	C12orf54	cis	parietal	SCAN
rs3825182	RP11-302B13.1	cis	Whole Blood	GTEx
rs3825182	FKBP11	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49315800-49321000	Weak transcription	K562	blood
4	chr12:49318000-49319800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:49318200-49319600	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr12:49318200-49319800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:49318200-49319800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:49318200-49319800	Active TSS	Right Ventricle	heart
9	chr12:49318400-49319600	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr12:49318400-49319600	Active TSS	Fetal Kidney	kidney
11	chr12:49318400-49319600	Active TSS	Fetal Lung	lung
12	chr12:49318400-49319600	Active TSS	Psoas Muscle	Psoas
13	chr12:49318400-49319600	Active TSS	Small Intestine	intestine
14	chr12:49318400-49319800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr12:49318400-49319800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr12:49318400-49320000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:49318600-49319600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:49318600-49319600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:49318600-49319600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:49318600-49319600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:49318600-49319600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:49318600-49319600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:49318600-49319600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:49318600-49319600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:49318600-49319600	Active TSS	Aorta	Aorta
26	chr12:49318600-49319800	Active TSS	Left Ventricle	heart
27	chr12:49319000-49319600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr12:49319000-49319600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr12:49319000-49319600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:49319000-49319600	Transcr. at gene 5' and 3'	A549	lung
31	chr12:49319000-49319600	Flanking Active TSS	HMEC	breast
32	chr12:49319000-49319800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:49319000-49319800	Flanking Active TSS	Fetal Brain Female	brain
34	chr12:49319200-49319600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:49319200-49319600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr12:49319200-49319600	Flanking Active TSS	Lung	lung
37	chr12:49319200-49319600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr12:49319200-49319600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr12:49319200-49319600	Flanking Active TSS	Spleen	Spleen
40	chr12:49319200-49319800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr12:49319200-49319800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
42	chr12:49319200-49319800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:49319200-49319800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr12:49319200-49319800	Flanking Active TSS	Pancreas	Pancrea
45	chr12:49319200-49319800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr12:49319200-49319800	Flanking Active TSS	HUVEC	blood vessel
47	chr12:49319200-49319800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr12:49319200-49320000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:49319400-49319600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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