Variant report

Variant	rs1230685
Chromosome Location	chr1:114292544-114292545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114284053..114286818-chr1:114290304..114293506,3	K562	blood:
2	chr1:114279377..114280979-chr1:114292085..114293798,2	K562	blood:
3	chr1:114289501..114293595-chr1:114300580..114305501,5	MCF-7	breast:
4	chr1:114288641..114291547-chr1:114291937..114296627,5	K562	blood:
5	chr1:114290867..114292556-chr1:114299615..114301510,2	K562	blood:
6	chr1:114286420..114288748-chr1:114290597..114292568,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10858005	0.82[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs10858007	0.82[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs10858008	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs10858011	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs10858017	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];0.96[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]
rs10858018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10858019	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10858021	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11102652	0.82[CEU][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap]
rs11102653	0.80[EUR][1000 genomes]
rs11102654	0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs11102661	0.85[EUR][1000 genomes]
rs11102669	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11102689	0.80[EUR][1000 genomes]
rs11102691	0.95[CEU][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs1111695	0.81[YRI][hapmap]
rs1113523	0.82[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1146182	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1146187	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12035317	0.82[CEU][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap]
rs12037873	0.82[CEU][hapmap]
rs12041547	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12044534	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12061482	0.89[ASW][hapmap];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];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12063216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12074958	0.82[CEU][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap]
rs12077419	0.80[EUR][1000 genomes]
rs1217192	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.81[MKK][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];0.81[EUR][1000 genomes]
rs1217200	0.90[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][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];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1217203	0.81[EUR][1000 genomes]
rs1217204	0.81[EUR][1000 genomes]
rs1217210	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1217211	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs1217214	0.80[EUR][1000 genomes]
rs1217215	0.80[EUR][1000 genomes]
rs1217223	0.81[EUR][1000 genomes]
rs1217226	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs1217227	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1217228	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1217230	0.81[EUR][1000 genomes]
rs1217232	0.81[EUR][1000 genomes]
rs1217233	0.81[EUR][1000 genomes]
rs1217234	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs1217235	0.82[CEU][hapmap];0.81[CHB][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs1217236	0.82[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs1217237	0.81[EUR][1000 genomes]
rs1217376	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217380	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[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217386	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217388	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];0.96[ASN][1000 genomes]
rs1217389	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];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217395	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[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217396	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];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217407	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];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217410	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];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217412	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];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217413	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.89[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	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1217421	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230637	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1230638	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230639	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230640	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];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230642	0.85[ASN][1000 genomes]
rs1230645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230646	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1230647	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]
rs1230649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230655	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230656	0.82[EUR][1000 genomes]
rs1230658	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1230659	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1230661	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs1230663	0.87[EUR][1000 genomes]
rs1230671	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230674	0.85[EUR][1000 genomes]
rs1230678	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230679	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230680	0.97[AFR][1000 genomes]
rs1230682	0.83[AFR][1000 genomes]
rs1230683	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1230686	0.83[AFR][1000 genomes]
rs1230687	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1235687	0.81[EUR][1000 genomes]
rs1235688	0.81[EUR][1000 genomes]
rs1237289	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs1237682	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12565589	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.96[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];0.88[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs12760067	0.81[ASN][1000 genomes]
rs1343125	0.82[CEU][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1343128	0.85[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs1418958	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs1599971	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1746853	0.81[CHB][hapmap]
rs1775754	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1777234	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1777237	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1777238	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1777241	0.89[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1935838	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1936398	0.89[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];0.97[TSI][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1981319	0.89[ASW][hapmap];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];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2093436	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243471	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295853	0.89[ASW][hapmap];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];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2359167	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2488457	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][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];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2636002	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2636013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636014	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2797408	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][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];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797412	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];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797414	0.90[ASW][hapmap];0.90[LWK][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs2798135	0.90[EUR][1000 genomes]
rs2798138	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4145859	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4423005	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4565712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4600045	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]
rs4838997	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4838998	0.86[ASN][1000 genomes]
rs4839335	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61817589	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6537792	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6537795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663679	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689879	0.81[CHB][hapmap]
rs6698586	0.89[ASW][hapmap];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];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6704188	0.81[CHB][hapmap];0.83[MEX][hapmap]
rs72687980	0.80[EUR][1000 genomes]
rs7526209	0.88[AMR][1000 genomes];0.85[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];0.91[EUR][1000 genomes]
rs7536360	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs7553188	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9429730	1.00[CEU][hapmap];0.92[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	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
2	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1230685	MAGI3	cis	parietal	SCAN
rs1230685	PHTF1	cis	cerebellum	SCAN
rs1230685	CAPZA1	cis	parietal	SCAN
rs1230685	PHTF1	cis	parietal	SCAN
rs1230685	MAGI3	cis	cerebellum	SCAN
rs1230685	BCL2L15	cis	cerebellum	SCAN

Chromatin state (count:106 , 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	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
3	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:114257600-114296200	Weak transcription	Pancreas	Pancrea
6	chr1:114258000-114300000	Weak transcription	Right Ventricle	heart
7	chr1:114261400-114300000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:114261400-114300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:114261400-114301000	Weak transcription	Lung	lung
10	chr1:114261600-114300200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:114261600-114300600	Weak transcription	Aorta	Aorta
12	chr1:114261600-114300600	Weak transcription	Esophagus	oesophagus
13	chr1:114261600-114300600	Weak transcription	Gastric	stomach
14	chr1:114263600-114300000	Weak transcription	Fetal Lung	lung
15	chr1:114263600-114300400	Weak transcription	Fetal Intestine Large	intestine
16	chr1:114264000-114300400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:114264200-114300000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:114267400-114299400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:114267400-114300000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:114268400-114298000	Weak transcription	A549	lung
21	chr1:114268600-114292600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:114268600-114296200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:114268800-114296400	Weak transcription	NHLF	lung
24	chr1:114268800-114299200	Weak transcription	Fetal Brain Female	brain
25	chr1:114269200-114296000	Weak transcription	Ovary	ovary
26	chr1:114272800-114300000	Weak transcription	Primary B cells from cord blood	blood
27	chr1:114275200-114292600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:114277800-114299200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:114279800-114300200	Weak transcription	Fetal Kidney	kidney
30	chr1:114280400-114299000	Weak transcription	Brain Germinal Matrix	brain
31	chr1:114280400-114300000	Weak transcription	Psoas Muscle	Psoas
32	chr1:114280400-114301400	Weak transcription	Spleen	Spleen
33	chr1:114280600-114296200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:114280600-114300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:114280600-114300200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:114280800-114300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:114281200-114299200	Weak transcription	Fetal Heart	heart
38	chr1:114281200-114300000	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:114281200-114300000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:114283000-114294000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:114285600-114298600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:114285800-114296200	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:114287000-114299200	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:114287200-114300200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:114287200-114300200	Weak transcription	Brain Substantia Nigra	brain
46	chr1:114288000-114293000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:114288200-114293000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:114288200-114298800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:114288200-114300000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:114288400-114300000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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