Variant report

Variant	rs3809147
Chromosome Location	chr12:49298059-49298060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr12:49297680-49298071	GM12878	blood:	n/a	n/a
2	MTA3	chr12:49297747-49298165	GM12878	blood:	n/a	n/a
3	YY1	chr12:49297754-49298084	GM12878	blood:	n/a	n/a
4	MXI1	chr12:49297738-49298477	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr12:49296905-49298557	A549	lung:	n/a	n/a
6	SIN3AK20	chr12:49297722-49298148	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr12:49297704-49298076	SK-N-SH_RA	brain:	n/a	n/a
8	BCL3	chr12:49297571-49298130	A549	lung:	n/a	n/a
9	EGR1	chr12:49297597-49298090	H1-hESC	embryonic stem cell:	n/a	chr12:49298000-49298007
10	CTCF	chr12:49297554-49298117	K562	blood:	n/a	n/a
11	SP2	chr12:49297620-49298117	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr12:49297706-49298141	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP2	chr12:49297709-49298091	K562	blood:	n/a	n/a
14	CTCF	chr12:49297703-49298106	A549	lung:	n/a	n/a
15	YY1	chr12:49297743-49298065	GM12891	blood:	n/a	n/a
16	SIN3AK20	chr12:49297728-49298079	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr12:49297528-49298306	SK-N-SH	brain:	n/a	n/a
18	MXI1	chr12:49297748-49298477	IMR90	lung:	n/a	n/a
19	TCF12	chr12:49297553-49298642	A549	lung:	n/a	n/a
20	POLR2A	chr12:49297757-49298136	H1-neurons	neurons:	n/a	n/a
21	RUNX3	chr12:49297722-49298141	GM12878	blood:	n/a	n/a
22	FOXA2	chr12:49297592-49298133	A549	lung:	n/a	n/a
23	SIN3AK20	chr12:49297749-49298060	PFSK-1	brain:	n/a	n/a
24	WRNIP1	chr12:49297760-49298159	GM12878	blood:	n/a	n/a
25	ZNF143	chr12:49297674-49298059	GM12878	blood:	n/a	n/a
26	SP2	chr12:49297618-49298105	HepG2	liver:	n/a	n/a
27	SP2	chr12:49297701-49298112	HepG2	liver:	n/a	n/a
28	SIN3AK20	chr12:49297740-49298139	PANC-1	pancreas:	n/a	n/a
29	MXI1	chr12:49297741-49298078	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:49297761-49298094	ECC-1	luminal epithelium:	n/a	n/a
31	BCLAF1	chr12:49297590-49298116	GM12878	blood:	n/a	n/a
32	RAD21	chr12:49297756-49298071	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIN3AK20	chr12:49297668-49298217	A549	lung:	n/a	n/a
34	SIN3AK20	chr12:49297696-49298078	A549	lung:	n/a	n/a
35	YY1	chr12:49297753-49298255	GM12878	blood:	n/a	n/a
36	CTCF	chr12:49297613-49298072	HCT-116	colon:	n/a	n/a
37	MXI1	chr12:49297724-49298116	GM12878	blood:	n/a	n/a
38	SIN3A	chr12:49297745-49298089	GM12878	blood:	n/a	n/a
39	TBL1XR1	chr12:49297741-49298069	GM12878	blood:	n/a	n/a
40	SIN3AK20	chr12:49297627-49298166	SK-N-SH	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49207912..49209568-chr12:49296260..49299188,2	K562	blood:
2	chr12:49258108..49259713-chr12:49297461..49298990,2	MCF-7	breast:
3	chr12:49258556..49260730-chr12:49298046..49299547,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239617	TF binding region
ENSG00000172602	Chromatin interaction
ENSG00000167535	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:120)

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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1054376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[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];0.94[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[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];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10747558	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783289	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10783290	0.95[ASN][1000 genomes]
rs10783292	0.91[AFR][1000 genomes];0.99[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];0.81[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783295	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783297	0.90[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];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10875888	0.84[AFR][1000 genomes];0.90[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.98[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];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875895	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875896	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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];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];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875898	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875900	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875901	0.82[EUR][1000 genomes];0.89[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];0.94[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];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1111662	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[ASN][1000 genomes]
rs11168779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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];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];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168784	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];1.00[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[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];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];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168792	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168794	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168795	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168797	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168798	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168800	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168801	0.84[ASN][1000 genomes]
rs11168803	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168812	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11608916	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610459	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11610497	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11614474	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12227240	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12228521	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12229275	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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];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];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579249	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1318692	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1690182	0.88[ASN][1000 genomes]
rs1818996	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1830192	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2030900	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2070940	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[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];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];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2131713	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[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];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293449	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2368701	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2453063	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2463175	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2641450	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2694839	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2694840	0.80[EUR][1000 genomes];0.87[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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];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]
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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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];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];1.00[ASN][1000 genomes]
rs4018510	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4237854	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4433614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4526804	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760647	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4760661	0.93[AFR][1000 genomes];0.98[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];0.81[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs4760663	0.80[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760664	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760665	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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];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];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[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];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4760668	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58023472	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59087236	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61941142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61942166	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61942167	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61942169	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61942207	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61942209	0.80[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];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134686	0.84[AMR][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];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7298330	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304942	0.99[ASN][1000 genomes]
rs7313988	0.89[ASN][1000 genomes]
rs7489036	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7963018	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7963160	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976473	0.85[ASN][1000 genomes]
rs833820	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs833821	0.88[ASN][1000 genomes]
rs833822	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.89[ASN][1000 genomes]
rs833827	0.89[ASN][1000 genomes]
rs833828	0.87[ASN][1000 genomes]
rs833839	0.83[ASN][1000 genomes]
rs833840	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs833841	0.86[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs833842	0.82[ASN][1000 genomes]
rs833843	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs961320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645813	0.81[EUR][1000 genomes];0.83[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9783477	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9788029	0.94[ASN][1000 genomes]
rs9795742	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9796008	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv983320	chr12:49297256-49298066	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3809147	FKBP11	cis	parietal	SCAN
rs3809147	C12orf54	cis	parietal	SCAN
rs3809147	FKBP11	cis	cerebellum	SCAN
rs3809147	RP11-302B13.1	cis	Whole Blood	GTEx
rs3809147	DDX23	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49297200-49298400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:49297200-49298400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:49297200-49298400	Active TSS	Brain Substantia Nigra	brain
4	chr12:49297400-49298200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:49297400-49298200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr12:49297400-49298200	Enhancers	Liver	Liver
7	chr12:49297400-49298200	Active TSS	Brain Cingulate Gyrus	brain
8	chr12:49297400-49298200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:49297400-49298200	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr12:49297400-49298200	Active TSS	Osteobl	bone
11	chr12:49297400-49298400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:49297400-49298400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:49297400-49298400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:49297400-49298400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:49297600-49298200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:49297600-49298200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:49297600-49298400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:49297600-49298400	Active TSS	Duodenum Mucosa	Duodenum
19	chr12:49297600-49298400	Active TSS	A549	lung
20	chr12:49297800-49298200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:49297800-49298200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:49297800-49298200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr12:49297800-49298200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:49297800-49298200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:49297800-49298200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:49297800-49298200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr12:49297800-49298200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:49297800-49298200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:49297800-49298200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:49297800-49298200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
31	chr12:49297800-49298200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr12:49297800-49298200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr12:49297800-49298200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr12:49297800-49298200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr12:49297800-49298200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr12:49297800-49298200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:49297800-49298200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:49297800-49298200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:49297800-49298200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr12:49297800-49298200	Active TSS	Muscle Satellite Cultured Cells	--
41	chr12:49297800-49298200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:49297800-49298200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:49297800-49298200	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr12:49297800-49298200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr12:49297800-49298200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:49297800-49298200	Active TSS	Colon Smooth Muscle	Colon
47	chr12:49297800-49298200	Active TSS	Esophagus	oesophagus
48	chr12:49297800-49298200	Active TSS	Fetal Brain Female	brain
49	chr12:49297800-49298200	Flanking Active TSS	Placenta	Placenta
50	chr12:49297800-49298200	Active TSS	Fetal Stomach	stomach

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Variant report

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