Variant report

Variant	rs3759146
Chromosome Location	chr12:49319699-49319700
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	chr12:49318295-49319719	GM12892	blood:	n/a	n/a
2	STAT5A	chr12:49319315-49319755	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:49318179-49319816	GM12892	blood:	n/a	n/a
4	CTCF	chr12:49319600-49319750	BJ	skin:	n/a	n/a
5	POLR2A	chr12:49318294-49319845	MCF-7	breast:	n/a	n/a
6	NR3C1	chr12:49318940-49319719	A549	lung:	n/a	chr12:49319684-49319691 chr12:49319219-49319232
7	ATF2	chr12:49319216-49319750	H1-hESC	embryonic stem cell:	n/a	n/a
8	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
9	MXI1	chr12:49319459-49319699	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr12:49319600-49319750	GM12873	blood:	n/a	n/a
11	POLR2A	chr12:49318182-49319869	GM12892	blood:	n/a	n/a
12	SIN3A	chr12:49318365-49319780	H1-hESC	embryonic stem cell:	n/a	n/a
13	STAT5A	chr12:49318066-49319746	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:49319601-49319739	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:49317828-49319985	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:49318352-49319741	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:49318270-49319815	H1-hESC	embryonic stem cell:	n/a	n/a
18	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
19	POLR2A	chr12:49318796-49319832	GM12891	blood:	n/a	n/a
20	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
21	SP4	chr12:49318913-49319778	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:49318945-49319724	A549	lung:	n/a	n/a
23	POLR2A	chr12:49318300-49319781	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:49318790-49319744	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:49317889-49319974	SK-N-MC	brain:	n/a	n/a
26	CTCF	chr12:49319580-49319730	BE2_C	brain:	n/a	n/a
27	POLR2A	chr12:49319089-49319720	SK-N-SH	brain:	n/a	n/a
28	RUNX3	chr12:49318834-49319825	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:49318361-49319735	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr12:49318787-49319775	ECC-1	luminal epithelium:	n/a	n/a
31	MAZ	chr12:49318338-49319722	GM12878	blood:	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
32	MXI1	chr12:49317977-49319865	SK-N-SH	brain:	n/a	chr12:49318746-49318755
33	ESRRA	chr12:49318852-49320035	GM12878	blood:	n/a	n/a
34	MTA3	chr12:49318196-49319984	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:49318370-49319714	Raji	blood:	n/a	n/a
36	MAX	chr12:49318257-49319761	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
37	JUND	chr12:49319410-49319741	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:49318259-49319878	HUVEC	blood vessel:	n/a	n/a
39	MXI1	chr12:49317279-49319939	IMR90	lung:	n/a	chr12:49318746-49318755
40	POLR2A	chr12:49318306-49319768	GM12878	blood:	n/a	n/a
41	CREB1	chr12:49318982-49319709	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr12:49317822-49319898	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:49318276-49319709	GM12878	blood:	n/a	n/a
44	WRNIP1	chr12:49319445-49319741	GM12878	blood:	n/a	n/a
45	CREB1	chr12:49318258-49319707	GM12878	blood:	n/a	n/a
46	BCL3	chr12:49318805-49319856	A549	lung:	n/a	n/a
47	MTA3	chr12:49318937-49319728	GM12878	blood:	n/a	n/a
48	PML	chr12:49318283-49319835	GM12878	blood:	n/a	n/a
49	NFATC1	chr12:49318081-49319706	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:49318377-49319703	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49319673-49319723	NHDF-neo	bronchial:	n/a
2	chr12:49319673-49319723	NB4	blood:	n/a
3	chr12:49319673-49319723	HRPEpiC	eye:	n/a
4	chr12:49319673-49319723	HRCEpiC	kidney:	n/a
5	chr12:49319673-49319723	NHBE	bronchial:	n/a
6	chr12:49319673-49319723	K562	blood:	n/a
7	chr12:49319673-49319723	SK-N-SH_RA	brain:	n/a
8	chr12:49319673-49319723	BJ	skin:	n/a
9	chr12:49319673-49319723	Jurkat	blood:	n/a
10	chr12:49319673-49319723	GM06990	blood:	n/a
11	chr12:49319673-49319723	GM19239	blood:	n/a
12	chr12:49319673-49319723	AG04450	lung:	fetal
13	chr12:49319673-49319723	HIPEpiC	eye:	n/a
14	chr12:49319673-49319723	HEEpiC	esophagus:	n/a
15	chr12:49319673-49319723	ProgFib	skin:	n/a
16	chr12:49319673-49319723	PrEC	prostate:	n/a
17	chr12:49319673-49319723	RPTEC	kidney:	n/a
18	chr12:49319673-49319723	U87	brain:	n/a
19	chr12:49319673-49319723	HMEC	breast:	n/a
20	chr12:49319673-49319723	T-47D	breast:	n/a
21	chr12:49319673-49319723	ECC-1	luminal epithelium:	n/a
22	chr12:49319673-49319723	LNCaP	prostate:	n/a
23	chr12:49319673-49319723	GM12878	blood:	n/a
24	chr12:49319673-49319723	HCPEpiC	choroid plexus:	n/a
25	chr12:49319673-49319723	A549	lung:	n/a
26	chr12:49319673-49319723	MCF-7	breast:	n/a
27	chr12:49319673-49319723	HUVEC	blood vessel:	n/a
28	chr12:49319673-49319723	AoSMC	blood vessel:	n/a
29	chr12:49319673-49319723	HEK293	kidney:	embryo
30	chr12:49319673-49319723	ovcar-3	ovarian:	n/a
31	chr12:49319673-49319723	AG09319	gingival:	n/a
32	chr12:49319673-49319723	SK-N-MC	brain:	n/a
33	chr12:49319673-49319723	PFSK-1	brain:	n/a
34	chr12:49319673-49319723	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:49319673-49319723	AG09309	skin:	n/a
36	chr12:49319673-49319723	BE2_C	brain:	n/a
37	chr12:49319673-49319723	AG04449	skin:	fetal
38	chr12:49319673-49319723	HL-60	blood:	n/a
39	chr12:49319673-49319723	HNPCEpiC	eye:	n/a
40	chr12:49319673-49319723	HCM	heart:	n/a
41	chr12:49319673-49319723	SK-N-SH	brain:	n/a
42	chr12:49319673-49319723	HCF	heart:	n/a
43	chr12:49319673-49319723	MCF10A-Er-Src	breast:	n/a
44	chr12:49319673-49319723	SAEC	small airway:	n/a
45	chr12:49319673-49319723	GM12891	blood:	n/a
46	chr12:49319673-49319723	HCT-116	colon:	n/a
47	chr12:49319673-49319723	HRE	kidney:	n/a
48	chr12:49319673-49319723	Caco-2	colon:	n/a
49	chr12:49319673-49319723	NH-A	brain:	n/a
50	chr12:49319673-49319723	Hepatocyte	liver:	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
ENSG00000172602	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000201678	Chromatin interaction
ENSG00000169884	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];0.81[AFR][1000 genomes];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];0.91[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];0.96[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];0.91[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];0.87[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	0.83[AFR][1000 genomes];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];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783295	0.91[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];0.91[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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875896	0.89[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];0.91[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];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875900	0.83[AFR][1000 genomes];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];0.83[AFR][1000 genomes];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	0.89[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];0.91[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];0.87[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];0.91[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];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168795	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168797	0.91[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	0.85[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	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11608916	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11610497	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11614474	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12227240	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228521	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12229275	0.85[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];0.96[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	0.91[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	0.91[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];0.96[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];0.91[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];0.91[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];0.87[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];0.86[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];1.00[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	0.91[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[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[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[AFR][1000 genomes];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];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825182	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]
rs3825184	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs4018510	0.87[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];1.00[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];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4526804	1.00[YRI][hapmap];0.85[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];0.93[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	0.85[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	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760665	0.91[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];0.87[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];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4760668	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58023472	0.91[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	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61942166	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942167	0.96[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	0.81[AFR][1000 genomes];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	0.96[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	0.83[AFR][1000 genomes];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	0.87[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];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9783477	0.85[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	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9796008	1.00[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
rs3759146	FKBP11	cis	parietal	SCAN
rs3759146	C12orf54	cis	parietal	SCAN
rs3759146	FKBP11	cis	cerebellum	SCAN
rs3759146	RP11-302B13.1	cis	Whole Blood	GTEx
rs3759146	DDX23	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	chr12:49318200-49319800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:49318200-49319800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:49318200-49319800	Active TSS	Right Ventricle	heart
8	chr12:49318400-49319800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:49318400-49319800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr12:49318400-49320000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:49318600-49319800	Active TSS	Left Ventricle	heart
12	chr12:49319000-49319800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:49319000-49319800	Flanking Active TSS	Fetal Brain Female	brain
14	chr12:49319200-49319800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:49319200-49319800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
16	chr12:49319200-49319800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:49319200-49319800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr12:49319200-49319800	Flanking Active TSS	Pancreas	Pancrea
19	chr12:49319200-49319800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr12:49319200-49319800	Flanking Active TSS	HUVEC	blood vessel
21	chr12:49319200-49319800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:49319200-49320000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:49319400-49319800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:49319400-49319800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:49319400-49319800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:49319400-49319800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:49319400-49319800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr12:49319400-49319800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr12:49319400-49319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:49319400-49319800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr12:49319400-49319800	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr12:49319400-49319800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr12:49319400-49319800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr12:49319400-49319800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:49319400-49319800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr12:49319400-49319800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr12:49319400-49319800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:49319400-49319800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:49319400-49319800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:49319400-49319800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:49319400-49319800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:49319400-49319800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:49319400-49319800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:49319400-49319800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:49319400-49319800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:49319400-49319800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:49319400-49319800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:49319400-49319800	Flanking Active TSS	Liver	Liver
50	chr12:49319400-49319800	Flanking Active TSS	Brain Angular Gyrus	brain

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Variant report

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