Variant report

Variant	rs4600045
Chromosome Location	chr1:114259557-114259558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10745339	0.82[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs10858000	0.82[CEU][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs10858005	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs10858007	0.82[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs10858008	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs10858011	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs10858016	0.94[AFR][1000 genomes]
rs10858017	0.89[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];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10858018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10858019	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10858021	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11102652	0.82[CEU][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap]
rs11102653	0.81[EUR][1000 genomes]
rs11102654	0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs11102657	0.81[EUR][1000 genomes]
rs11102661	0.85[EUR][1000 genomes]
rs11102669	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11102691	0.95[CEU][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs1111695	0.89[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1113523	0.82[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1146182	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146187	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12035317	0.82[CEU][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap]
rs12037873	0.82[CEU][hapmap]
rs12041547	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12044534	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12061482	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12063216	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12074958	0.82[CEU][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap]
rs12077419	0.81[EUR][1000 genomes]
rs1217192	0.89[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs1217193	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs1217199	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs1217200	0.81[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.85[EUR][1000 genomes]
rs1217201	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1217203	0.82[EUR][1000 genomes]
rs1217204	0.82[EUR][1000 genomes]
rs1217208	0.80[EUR][1000 genomes]
rs1217210	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1217211	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs1217214	0.81[EUR][1000 genomes]
rs1217215	0.81[EUR][1000 genomes]
rs1217223	0.82[EUR][1000 genomes]
rs1217226	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1217227	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1217228	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1217230	0.82[EUR][1000 genomes]
rs1217232	0.82[EUR][1000 genomes]
rs1217233	0.82[EUR][1000 genomes]
rs1217234	0.89[ASW][hapmap];0.82[CEU][hapmap];0.81[CHB][hapmap];0.92[LWK][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs1217235	0.82[CEU][hapmap];0.81[CHB][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs1217236	0.82[CEU][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs1217237	0.82[EUR][1000 genomes]
rs1217376	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217386	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1217388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217407	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[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];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217415	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs1217416	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217421	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230637	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230638	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230639	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230640	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];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230642	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230646	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230647	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]
rs1230649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230655	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1230656	0.85[EUR][1000 genomes]
rs1230658	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1230659	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1230661	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs1230663	0.89[EUR][1000 genomes]
rs1230671	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1230674	0.87[EUR][1000 genomes]
rs1230678	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230679	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230683	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1230685	0.89[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];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230687	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1235687	0.82[EUR][1000 genomes]
rs1235688	0.82[EUR][1000 genomes]
rs1237289	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs1237682	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12565589	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs12566340	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs12760067	0.85[ASN][1000 genomes]
rs1343125	0.82[CEU][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1343128	0.90[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs1418958	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs1599971	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17013326	0.81[CEU][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap]
rs17031716	0.86[CHB][hapmap]
rs1743605	0.89[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1746853	0.81[CHB][hapmap]
rs1775754	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1777234	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1777237	0.89[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1777238	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1777241	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1935838	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1936398	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981319	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093436	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2185971	0.81[ASW][hapmap]
rs2243471	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295853	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2488457	0.90[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs2488458	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2636002	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2636013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636014	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797408	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2797409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2797412	0.89[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];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2797414	0.81[ASW][hapmap];0.83[YRI][hapmap]
rs2798135	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2798138	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2884703	0.81[EUR][1000 genomes]
rs4145859	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4423005	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456089	0.82[CEU][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs4565712	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4838997	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4838998	0.87[ASN][1000 genomes]
rs4839335	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61817589	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6537792	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6537795	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689879	0.81[CHB][hapmap]
rs6698586	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704188	0.81[CHB][hapmap];0.83[MEX][hapmap]
rs72687980	0.81[EUR][1000 genomes]
rs7526209	0.86[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];0.84[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs7536360	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7553188	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9429730	1.00[CEU][hapmap];0.86[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	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
3	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers 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	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4600045	CAPZA1	cis	parietal	SCAN
rs4600045	MAGI3	cis	cerebellum	SCAN
rs4600045	BCL2L15	cis	cerebellum	SCAN
rs4600045	MAGI3	cis	parietal	SCAN
rs4600045	SIKE1	cis	parietal	SCAN
rs4600045	PHTF1	cis	parietal	SCAN
rs4600045	PHTF1	cis	cerebellum	SCAN

Chromatin state (count:110 , 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	chr1:114238200-114264400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:114238400-114266800	Weak transcription	NHEK	skin
9	chr1:114239000-114260400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:114239200-114279800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:114240200-114260800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:114240200-114279400	Weak transcription	Psoas Muscle	Psoas
13	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:114242200-114260200	Weak transcription	Esophagus	oesophagus
15	chr1:114242200-114260800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:114242200-114260800	Weak transcription	Fetal Lung	lung
17	chr1:114242200-114260800	Weak transcription	Ovary	ovary
18	chr1:114242200-114261000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:114242200-114261200	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:114242200-114261200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:114242800-114269800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:114245400-114270800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:114245400-114275000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:114245800-114261200	Weak transcription	Primary T cells from cord blood	blood
26	chr1:114246000-114259800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:114246000-114260200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:114248800-114290200	Weak transcription	HMEC	breast
29	chr1:114250600-114261200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:114251000-114260800	Weak transcription	Brain Angular Gyrus	brain
31	chr1:114251000-114291400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:114251800-114261000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:114252800-114260800	Weak transcription	Hela-S3	cervix
34	chr1:114253000-114261000	Weak transcription	Placenta	Placenta
35	chr1:114253000-114261000	Weak transcription	HepG2	liver
36	chr1:114253000-114279400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:114253000-114279600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:114253200-114260200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:114253200-114260400	Weak transcription	Fetal Brain Female	brain
40	chr1:114253200-114261000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:114253200-114263400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:114253200-114266800	Weak transcription	HSMM	muscle
43	chr1:114253400-114260600	Weak transcription	Fetal Intestine Large	intestine
44	chr1:114253400-114266800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:114254000-114272200	Weak transcription	HSMMtube	muscle
46	chr1:114254200-114261200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:114254400-114260000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:114254600-114277000	Weak transcription	Adipose Nuclei	Adipose
49	chr1:114254800-114260600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:114254800-114262600	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links