Variant report

Variant	rs2649048
Chromosome Location	chr11:9738221-9738222
allele	A/G
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	IRF4	chr11:9738144-9738713	GM12878	blood:	n/a	n/a
2	ATF2	chr11:9737913-9738893	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:9738114-9738807	GM12892	blood:	n/a	n/a
4	FOXM1	chr11:9737657-9738804	GM12878	blood:	n/a	n/a
5	STAT5A	chr11:9737943-9738845	GM12878	blood:	n/a	n/a
6	FOXM1	chr11:9737959-9738833	GM12878	blood:	n/a	n/a
7	SPI1	chr11:9738175-9738716	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:9738204-9738691	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:9738041-9738766	HL-60	blood:	n/a	n/a
10	POLR2A	chr11:9737957-9738810	GM12892	blood:	n/a	n/a
11	TEAD4	chr11:9738105-9738739	K562	blood:	n/a	n/a
12	POU2F2	chr11:9738206-9738605	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:9738063-9738783	GM12892	blood:	n/a	n/a
14	CBX3	chr11:9738138-9738644	K562	blood:	n/a	n/a
15	RUNX3	chr11:9737766-9738823	GM12878	blood:	n/a	n/a
16	EP300	chr11:9737957-9738789	GM12878	blood:	n/a	chr11:9738728-9738737 chr11:9738727-9738741 chr11:9738704-9738712
17	MTA3	chr11:9737247-9738898	GM12878	blood:	n/a	n/a
18	SRF	chr11:9738217-9738524	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:9737228-9738850	GM12892	blood:	n/a	n/a
20	RELA	chr11:9737416-9738706	GM10847	blood:	n/a	n/a
21	MTA3	chr11:9738182-9738745	GM12878	blood:	n/a	n/a
22	SPI1	chr11:9738103-9738724	GM12891	blood:	n/a	n/a
23	RELA	chr11:9737345-9738704	GM12891	blood:	n/a	n/a
24	RUNX3	chr11:9737949-9738746	GM12878	blood:	n/a	n/a
25	STAT1	chr11:9738162-9738465	GM12878	blood:	n/a	n/a
26	GATA2	chr11:9738203-9738636	HUVEC	blood vessel:	n/a	n/a
27	WRNIP1	chr11:9738089-9738680	GM12878	blood:	n/a	n/a
28	CREB1	chr11:9738142-9738888	GM12878	blood:	n/a	n/a
29	BCLAF1	chr11:9737807-9738818	GM12878	blood:	n/a	chr11:9738732-9738741
30	SPI1	chr11:9738128-9738713	GM12891	blood:	n/a	n/a
31	NFIC	chr11:9737792-9738901	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:9737727-9738955	HUVEC	blood vessel:	n/a	n/a
33	SPI1	chr11:9738049-9738907	HL-60	blood:	n/a	chr11:9738732-9738741
34	POLR2A	chr11:9738135-9738664	HUVEC	blood vessel:	n/a	n/a
35	RELA	chr11:9737412-9738687	GM19099	blood:	n/a	n/a
36	RCOR1	chr11:9738140-9738682	K562	blood:	n/a	n/a
37	BATF	chr11:9737889-9738681	GM12878	blood:	n/a	n/a
38	IKZF1	chr11:9738055-9738823	GM12878	blood:	n/a	n/a
39	RCOR1	chr11:9738053-9738636	K562	blood:	n/a	n/a
40	CEBPB	chr11:9737798-9738724	GM12878	blood:	n/a	n/a
41	SPI1	chr11:9738163-9738656	GM12878	blood:	n/a	n/a
42	BCL3	chr11:9738220-9738660	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:9737906-9738794	HUVEC	blood vessel:	n/a	n/a
44	NFATC1	chr11:9738004-9738787	GM12878	blood:	n/a	n/a
45	PML	chr11:9738040-9738903	GM12878	blood:	n/a	n/a
46	SPI1	chr11:9737736-9739030	GM12878	blood:	n/a	chr11:9738732-9738741
47	NFIC	chr11:9737676-9738870	GM12878	blood:	n/a	n/a
48	ATF2	chr11:9737880-9738807	GM12878	blood:	n/a	n/a
49	BCLAF1	chr11:9738038-9738709	GM12878	blood:	n/a	n/a
50	NFATC1	chr11:9738089-9738900	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SWAP70	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10770057	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840290	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840291	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840292	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042471	0.92[ASN][1000 genomes]
rs11042472	0.92[ASN][1000 genomes]
rs11042473	0.92[ASN][1000 genomes]
rs11042474	0.92[ASN][1000 genomes]
rs11042475	0.92[ASN][1000 genomes]
rs11042476	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042477	0.92[ASN][1000 genomes]
rs11042478	0.92[ASN][1000 genomes]
rs11042481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271923	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272107	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272167	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12272277	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275468	0.92[ASN][1000 genomes]
rs12280169	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12280320	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283340	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12283521	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12289312	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12291809	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12295129	0.92[ASN][1000 genomes]
rs12421878	1.00[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs12786236	1.00[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs12789209	0.82[EUR][1000 genomes]
rs12803440	0.84[EUR][1000 genomes]
rs12805683	0.87[EUR][1000 genomes]
rs1390679	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390680	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1390681	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390683	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496477	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1695613	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1874476	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960386	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1960387	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2010535	0.84[EUR][1000 genomes]
rs2088293	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2101902	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2132565	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132566	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132567	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2252445	0.84[ASN][1000 genomes]
rs2252446	0.84[AMR][1000 genomes]
rs2336805	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2453831	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2453832	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454611	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2454612	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572934	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572935	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572936	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2572937	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2572938	0.92[ASN][1000 genomes]
rs2572939	0.92[ASN][1000 genomes]
rs2572940	0.92[ASN][1000 genomes]
rs2572941	0.92[ASN][1000 genomes]
rs2572942	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2572943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572944	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572945	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2645007	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645008	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645010	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645011	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645012	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645018	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2645019	0.94[ASN][1000 genomes]
rs2645021	0.92[ASN][1000 genomes]
rs2645022	0.92[ASN][1000 genomes]
rs2645023	0.92[ASN][1000 genomes]
rs2645024	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2645025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2649046	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2649047	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs34043654	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs368731	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs369737	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs376553	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs379692	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs385846	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs389534	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs392815	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs397250	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];0.92[ASN][1000 genomes]
rs397602	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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397686	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs399898	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs408569	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413976	0.93[ASN][1000 genomes]
rs414109	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs416766	0.99[ASN][1000 genomes]
rs416804	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs418931	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs419412	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs422061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs424455	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs428747	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs429546	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs431908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs435079	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs440523	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs441965	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs442722	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs443576	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs446146	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs447601	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4478983	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs449005	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs452169	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs476163	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910060	0.88[EUR][1000 genomes]
rs4910491	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910492	0.88[EUR][1000 genomes]
rs4910493	0.85[EUR][1000 genomes]
rs4910494	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4910495	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4910496	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910497	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs534901	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs581004	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58960327	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60466677	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878110	0.85[EUR][1000 genomes]
rs67598578	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs67867011	0.85[EUR][1000 genomes]
rs7116226	0.81[EUR][1000 genomes]
rs7117197	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72484737	0.87[ASN][1000 genomes]
rs73410140	0.92[ASN][1000 genomes]
rs7935643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7949818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892853	0.84[EUR][1000 genomes]
rs892855	0.84[EUR][1000 genomes]
rs920080	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920081	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs920082	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2649048	RIC3	cis	cerebellum	SCAN
rs2649048	PRRT3	trans	cerebellum	SCAN
rs2649048	ASCL3	cis	parietal	SCAN
rs2649048	SWAP70	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
2	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:9717600-9738800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:9717600-9739200	Weak transcription	NHLF	lung
5	chr11:9717600-9751000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:9717600-9751000	Weak transcription	Ovary	ovary
7	chr11:9718200-9749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:9724000-9739400	Weak transcription	Fetal Lung	lung
9	chr11:9725200-9740800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:9725200-9749600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:9725400-9741800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:9725600-9748000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:9726600-9749600	Weak transcription	Liver	Liver
14	chr11:9729600-9755400	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr11:9730400-9739400	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:9730600-9739400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:9730600-9739400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:9730600-9739400	Weak transcription	Small Intestine	intestine
19	chr11:9730600-9747200	Weak transcription	Pancreas	Pancrea
20	chr11:9730600-9758200	Weak transcription	Esophagus	oesophagus
21	chr11:9731200-9740800	Weak transcription	Brain Substantia Nigra	brain
22	chr11:9732000-9754000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:9733200-9738800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:9733200-9743800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:9733200-9754000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:9733400-9739000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:9733400-9739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:9733400-9749400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:9733400-9754200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:9733600-9739400	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:9733600-9739400	Weak transcription	Fetal Kidney	kidney
32	chr11:9733600-9741600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:9733600-9757000	Weak transcription	Fetal Brain Female	brain
34	chr11:9733600-9761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:9733800-9739600	Weak transcription	Brain Angular Gyrus	brain
36	chr11:9733800-9743800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:9733800-9759800	Weak transcription	Fetal Heart	heart
38	chr11:9735000-9738400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:9735000-9739400	Weak transcription	Stomach Mucosa	stomach
40	chr11:9735600-9738400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:9736000-9738400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:9736400-9739400	Weak transcription	HepG2	liver
43	chr11:9736400-9741200	Weak transcription	Primary T cells from cord blood	blood
44	chr11:9737200-9738600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:9737200-9739600	Enhancers	Spleen	Spleen
46	chr11:9737400-9738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:9737400-9738800	Flanking Active TSS	GM12878-XiMat	blood
48	chr11:9737400-9739400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:9737400-9740000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:9737400-9740000	Genic enhancers	NHDF-Ad	bronchial

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