Variant report

Variant	rs1230647
Chromosome Location	chr1:114253639-114253640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10745339	0.82[ASW][hapmap];0.82[CEU][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs10858000	0.82[ASW][hapmap];0.82[CEU][hapmap];0.91[GIH][hapmap];0.82[LWK][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs10858005	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10858007	0.82[ASW][hapmap];0.82[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10858008	0.82[ASW][hapmap];0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10858011	0.82[ASW][hapmap];0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10858017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10858018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10858019	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10858021	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11102652	0.82[ASW][hapmap];0.82[CEU][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs11102653	0.82[EUR][1000 genomes]
rs11102654	0.81[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs11102657	0.82[EUR][1000 genomes]
rs11102661	0.86[EUR][1000 genomes]
rs11102669	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11102691	0.82[ASW][hapmap];0.95[CEU][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs1113523	0.82[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs1146182	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1146187	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12035317	0.82[ASW][hapmap];0.82[CEU][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs12037873	0.82[CEU][hapmap]
rs12041547	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12044534	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12060836	1.00[YRI][hapmap]
rs12061482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12063216	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12069381	1.00[YRI][hapmap]
rs12071676	1.00[YRI][hapmap]
rs12074958	0.82[ASW][hapmap];0.82[CEU][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs12077419	0.82[EUR][1000 genomes]
rs12094790	1.00[YRI][hapmap]
rs1217192	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs1217193	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[EUR][1000 genomes]
rs1217199	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs1217200	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs1217201	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs1217203	0.84[EUR][1000 genomes]
rs1217204	0.84[EUR][1000 genomes]
rs1217208	0.81[EUR][1000 genomes]
rs1217210	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1217211	0.82[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs1217214	0.83[EUR][1000 genomes]
rs1217215	0.82[EUR][1000 genomes]
rs1217223	0.84[EUR][1000 genomes]
rs1217226	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1217227	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs1217228	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs1217230	0.83[EUR][1000 genomes]
rs1217232	0.84[EUR][1000 genomes]
rs1217233	0.84[EUR][1000 genomes]
rs1217234	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs1217235	0.82[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs1217236	0.82[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs1217237	0.84[EUR][1000 genomes]
rs1217376	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217380	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217386	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1217388	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217389	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217395	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217396	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217407	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217410	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217412	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217413	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217415	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1217416	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217421	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1228280	0.80[EUR][1000 genomes]
rs1230637	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230638	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230639	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230640	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];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230642	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230645	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230646	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230649	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230655	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1230656	0.86[EUR][1000 genomes]
rs1230658	0.84[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1230659	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1230661	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs1230663	0.90[EUR][1000 genomes]
rs1230671	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1230674	0.88[EUR][1000 genomes]
rs1230678	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230679	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230683	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1230685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230687	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1235687	0.84[EUR][1000 genomes]
rs1235688	0.84[EUR][1000 genomes]
rs1237289	0.82[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs1237682	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12565589	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs12566340	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs12760067	0.85[ASN][1000 genomes]
rs1343125	0.82[ASW][hapmap];0.82[CEU][hapmap];0.97[GIH][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs1343128	0.82[ASW][hapmap];0.85[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.88[LWK][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs1418958	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs1599971	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17013326	0.82[ASW][hapmap];0.81[CEU][hapmap];0.91[GIH][hapmap];0.82[LWK][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs17031716	0.86[CHB][hapmap]
rs1743605	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1746853	0.81[CHB][hapmap]
rs1775754	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1777234	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1777237	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1777238	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1777241	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1935838	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1936398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093436	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243471	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359167	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2488457	0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs2488458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2636002	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2636013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636014	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797408	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2797409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2797412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2798135	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2798138	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2884703	0.82[EUR][1000 genomes]
rs4145859	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4423005	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456089	0.82[ASW][hapmap];0.82[CEU][hapmap];0.91[GIH][hapmap];0.82[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs4565712	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4600045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838997	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4838998	0.87[ASN][1000 genomes]
rs4839335	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61817589	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6537792	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6537795	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663679	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689879	0.81[CHB][hapmap]
rs6698586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704188	0.81[CHB][hapmap];0.83[MEX][hapmap]
rs72687980	0.82[EUR][1000 genomes]
rs7526209	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7529353	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs7536360	0.82[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs7553188	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9429730	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[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	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1230647	MAGI3	cis	cerebellum	SCAN
rs1230647	PHTF1	cis	cerebellum	SCAN
rs1230647	BCL2L15	cis	cerebellum	SCAN
rs1230647	CAPZA1	cis	parietal	SCAN
rs1230647	PHTF1	cis	parietal	SCAN
rs1230647	MAGI3	cis	parietal	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:114220400-114263800	Weak transcription	Fetal Kidney	kidney
4	chr1:114227000-114268200	Weak transcription	NHLF	lung
5	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
7	chr1:114237400-114256600	Weak transcription	Colonic Mucosa	Colon
8	chr1:114238000-114258200	Weak transcription	Fetal Heart	heart
9	chr1:114238200-114256000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:114238200-114264400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:114238400-114266800	Weak transcription	NHEK	skin
12	chr1:114239000-114260400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:114239200-114279800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:114239400-114258600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:114240200-114260800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:114240200-114279400	Weak transcription	Psoas Muscle	Psoas
17	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:114242200-114256200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:114242200-114256200	Weak transcription	Right Ventricle	heart
20	chr1:114242200-114256200	Weak transcription	A549	lung
21	chr1:114242200-114256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:114242200-114256400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:114242200-114256400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:114242200-114256400	Weak transcription	Aorta	Aorta
25	chr1:114242200-114256400	Weak transcription	Spleen	Spleen
26	chr1:114242200-114256600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:114242200-114258800	Weak transcription	Brain Substantia Nigra	brain
28	chr1:114242200-114260200	Weak transcription	Esophagus	oesophagus
29	chr1:114242200-114260800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:114242200-114260800	Weak transcription	Fetal Lung	lung
31	chr1:114242200-114260800	Weak transcription	Ovary	ovary
32	chr1:114242200-114261000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:114242200-114261200	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:114242200-114261200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:114242400-114256200	Weak transcription	Brain Germinal Matrix	brain
36	chr1:114242400-114256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:114242800-114269800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:114245400-114258000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:114245400-114270800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:114245400-114275000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:114245800-114261200	Weak transcription	Primary T cells from cord blood	blood
43	chr1:114246000-114257400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:114246000-114259800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:114246000-114260200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:114246200-114257200	Strong transcription	HUVEC	blood vessel
47	chr1:114246200-114257600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:114246400-114257600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:114246400-114258800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:114246600-114255200	Strong transcription	Primary monocytes fromperipheralblood	blood

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