Variant report

Variant	rs813243
Chromosome Location	chr3:50658512-50658513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50655300..50656940-chr3:50657923..50659594,2	K562	blood:
2	chr3:50653782..50656191-chr3:50656485..50658551,3	MCF-7	breast:
3	chr3:50656743..50658833-chr3:50659825..50662779,2	K562	blood:
4	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
5	chr3:50658169..50660186-chr3:50671108..50673991,2	MCF-7	breast:
6	chr3:50571719..50574325-chr3:50657632..50660036,2	K562	blood:

Variant related genes	Relation type
ENSG00000114738	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000088543	Chromatin interaction

Extended variants
information (count: 245 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:237)

rs_ID	r²[population]
rs1013233	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1034405	0.86[TSI][hapmap];0.89[YRI][hapmap]
rs1077215	0.82[CHD][hapmap]
rs11130255	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11710858	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11712367	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs11716398	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11921011	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs12487821	0.82[CHD][hapmap]
rs12489607	0.82[CHD][hapmap]
rs12491425	0.80[AMR][1000 genomes]
rs12495399	0.82[CHD][hapmap]
rs12639126	1.00[CEU][hapmap]
rs129310	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13072085	0.83[EUR][1000 genomes]
rs13075344	0.85[EUR][1000 genomes]
rs13075377	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs13084771	0.91[EUR][1000 genomes]
rs13085096	0.85[EUR][1000 genomes]
rs13089719	0.88[EUR][1000 genomes]
rs13091933	0.86[TSI][hapmap]
rs13094785	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13095920	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs13096264	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13096772	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs1379873	0.84[EUR][1000 genomes]
rs1379874	0.84[EUR][1000 genomes]
rs1379875	0.84[EUR][1000 genomes]
rs1385025	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1458386	1.00[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs1458387	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1463496	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1463497	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1471177	1.00[CEU][hapmap]
rs1531271	0.84[EUR][1000 genomes]
rs1563683	0.82[EUR][1000 genomes]
rs1563684	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1598927	0.85[EUR][1000 genomes]
rs1598928	0.84[EUR][1000 genomes]
rs17051043	0.82[CHD][hapmap]
rs17051045	0.82[CHD][hapmap]
rs17051403	0.82[CHD][hapmap]
rs175634	0.94[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17660179	0.81[EUR][1000 genomes]
rs17660513	1.00[CEU][hapmap]
rs17787569	0.86[TSI][hapmap]
rs1824280	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1824281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1841067	0.84[EUR][1000 genomes]
rs1902960	0.82[EUR][1000 genomes]
rs1947607	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1966920	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1966921	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1971976	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs201193	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs201194	0.83[CEU][hapmap];0.86[TSI][hapmap]
rs201198	0.86[TSI][hapmap]
rs2035484	0.82[CHD][hapmap]
rs2061388	1.00[CEU][hapmap]
rs2085582	0.84[EUR][1000 genomes]
rs2085584	0.84[EUR][1000 genomes]
rs2085585	0.84[EUR][1000 genomes]
rs2085586	0.84[EUR][1000 genomes]
rs2086827	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2125366	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2125369	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2168863	1.00[CEU][hapmap]
rs2168865	0.84[EUR][1000 genomes]
rs2168866	1.00[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs2170840	0.91[LWK][hapmap];0.92[MKK][hapmap];0.81[AFR][1000 genomes]
rs2199050	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2219431	0.84[EUR][1000 genomes]
rs2219432	0.84[EUR][1000 genomes]
rs2219433	0.85[EUR][1000 genomes]
rs2232248	1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2262810	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2269505	0.88[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2355323	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2355341	0.86[EUR][1000 genomes]
rs2355702	0.85[EUR][1000 genomes]
rs2608988	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2608989	0.80[EUR][1000 genomes]
rs2608990	0.84[EUR][1000 genomes]
rs2608999	0.80[EUR][1000 genomes]
rs2609001	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2609005	0.80[EUR][1000 genomes]
rs2609006	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2609016	0.84[EUR][1000 genomes]
rs2609018	0.84[EUR][1000 genomes]
rs2609019	0.84[EUR][1000 genomes]
rs2609020	1.00[CEU][hapmap]
rs2609022	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2609024	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2609028	0.84[EUR][1000 genomes]
rs2609031	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2609035	0.86[EUR][1000 genomes]
rs2609036	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2609037	1.00[CEU][hapmap]
rs2675769	0.80[EUR][1000 genomes]
rs2675771	0.80[EUR][1000 genomes]
rs2675772	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2675773	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2675774	0.80[EUR][1000 genomes]
rs2675784	0.84[EUR][1000 genomes]
rs2675792	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2675806	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2675810	0.94[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2675812	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2675813	0.80[EUR][1000 genomes]
rs2675816	1.00[CEU][hapmap]
rs2675819	0.84[EUR][1000 genomes]
rs2675821	0.84[EUR][1000 genomes]
rs2675822	0.84[EUR][1000 genomes]
rs2675825	0.84[EUR][1000 genomes]
rs2675827	0.80[EUR][1000 genomes]
rs2675830	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2883652	1.00[CEU][hapmap]
rs34048522	0.80[EUR][1000 genomes]
rs34266990	0.85[EUR][1000 genomes]
rs34390947	0.85[EUR][1000 genomes]
rs34492910	0.88[EUR][1000 genomes]
rs34584636	0.86[TSI][hapmap]
rs34632971	0.91[EUR][1000 genomes]
rs34773360	0.86[EUR][1000 genomes]
rs34846525	0.91[EUR][1000 genomes]
rs34848480	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34866096	0.88[EUR][1000 genomes]
rs35140911	0.80[EUR][1000 genomes]
rs35170043	0.86[EUR][1000 genomes]
rs35193996	0.84[EUR][1000 genomes]
rs35429015	0.88[EUR][1000 genomes]
rs35531616	0.88[EUR][1000 genomes]
rs35566897	0.88[EUR][1000 genomes]
rs36011798	0.88[EUR][1000 genomes]
rs36057916	0.84[EUR][1000 genomes]
rs375544	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792325	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3792328	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];0.91[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804627	0.94[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3804628	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3804632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs388483	0.86[YRI][hapmap]
rs3943212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs396302	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs399971	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs414171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs417592	1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs441516	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4429624	1.00[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs443030	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs443436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4476497	0.81[AFR][1000 genomes]
rs448028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4482663	1.00[CEU][hapmap]
rs4485709	0.82[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs4530518	0.85[EUR][1000 genomes]
rs453570	0.94[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4688696	0.81[CHD][hapmap]
rs4688702	1.00[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs4688703	0.82[EUR][1000 genomes]
rs4688705	0.81[AFR][1000 genomes]
rs490634	0.83[CEU][hapmap]
rs5000953	0.82[EUR][1000 genomes]
rs61549968	0.88[EUR][1000 genomes]
rs616589	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs616689	0.82[CHD][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];0.85[AFR][1000 genomes]
rs622502	0.80[EUR][1000 genomes]
rs628081	0.81[JPT][hapmap]
rs6446208	0.81[AFR][1000 genomes]
rs6446210	0.89[EUR][1000 genomes]
rs6446212	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6446213	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6446214	0.94[CEU][hapmap];0.93[TSI][hapmap]
rs6446215	0.82[EUR][1000 genomes]
rs6446220	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6446222	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap]
rs66472954	0.84[EUR][1000 genomes]
rs66684483	0.84[EUR][1000 genomes]
rs66867590	0.91[EUR][1000 genomes]
rs67211895	0.84[EUR][1000 genomes]
rs67410403	0.80[EUR][1000 genomes]
rs6763990	0.81[EUR][1000 genomes]
rs67672341	0.84[EUR][1000 genomes]
rs6770954	0.83[EUR][1000 genomes]
rs6771348	0.81[AFR][1000 genomes]
rs6775012	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6776224	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6778680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6779819	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6783922	0.81[AFR][1000 genomes]
rs6791880	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs6796769	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68191286	0.88[EUR][1000 genomes]
rs695170	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs71326944	0.88[EUR][1000 genomes]
rs71326945	0.85[EUR][1000 genomes]
rs71329007	0.80[EUR][1000 genomes]
rs71329014	0.81[EUR][1000 genomes]
rs71329017	0.84[EUR][1000 genomes]
rs728901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73072418	0.88[EUR][1000 genomes]
rs73072438	0.86[EUR][1000 genomes]
rs73072442	0.88[EUR][1000 genomes]
rs743753	0.82[CHD][hapmap]
rs745356	0.81[AFR][1000 genomes]
rs750510	0.88[CHD][hapmap];0.87[MEX][hapmap]
rs751851	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs754298	0.82[CEU][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap]
rs7611428	1.00[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs7615703	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7629253	1.00[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs7635666	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7642158	0.85[EUR][1000 genomes]
rs7645212	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7646236	0.94[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7650574	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7652715	1.00[CEU][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs808148	0.81[AFR][1000 genomes]
rs808149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs809451	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs809454	0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs876103	0.81[AFR][1000 genomes]
rs876104	0.82[CHD][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];0.81[AFR][1000 genomes]
rs876105	0.81[AFR][1000 genomes]
rs900735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs936405	1.00[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs936406	1.00[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs9682401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9824522	0.81[ASN][1000 genomes]
rs9825535	0.94[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[ASN][1000 genomes]
rs9826757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9838283	1.00[CEU][hapmap]
rs9839684	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9867489	0.81[ASN][1000 genomes]
rs9868889	0.85[AFR][1000 genomes]
rs9869945	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.83[YRI][hapmap]
rs9879397	0.82[CHD][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs813243	HEMK1	cis	cerebellum	SCAN
rs813243	MAPKAPK3	cis	multi-tissue	Pritchard
rs813243	NBEAL2	cis	cerebellum	SCAN
rs813243	HEMK1	cis	Lymphoblastoid	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50654800-50658800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:50655000-50658600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:50655000-50658800	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr3:50655000-50659400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:50655200-50658800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr3:50655200-50659000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr3:50655400-50677800	Weak transcription	Aorta	Aorta
8	chr3:50655600-50681200	Weak transcription	Fetal Brain Female	brain
9	chr3:50655800-50658600	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:50655800-50658600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:50655800-50658800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:50655800-50659400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:50655800-50659800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:50655800-50661000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:50655800-50661400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:50655800-50661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:50655800-50661400	Weak transcription	Fetal Brain Male	brain
18	chr3:50655800-50661400	Weak transcription	NHLF	lung
19	chr3:50655800-50661600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:50655800-50661600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:50655800-50661600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:50655800-50661600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:50655800-50661800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:50655800-50661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:50655800-50662000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:50655800-50662000	Weak transcription	Fetal Lung	lung
27	chr3:50655800-50662200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:50655800-50665000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:50655800-50665000	Weak transcription	Brain Angular Gyrus	brain
30	chr3:50655800-50666000	Enhancers	Fetal Heart	heart
31	chr3:50656000-50658600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr3:50656000-50658800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:50656000-50658800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:50656000-50659200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr3:50656000-50661200	Weak transcription	Small Intestine	intestine
36	chr3:50656000-50661400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:50656000-50675600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:50656000-50677800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:50656200-50658800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr3:50656200-50660200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:50656200-50661400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:50656600-50658800	Enhancers	NHDF-Ad	bronchial
43	chr3:50656800-50658600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:50656800-50658600	Genic enhancers	NHEK	skin
45	chr3:50656800-50658800	Enhancers	HSMM	muscle
46	chr3:50656800-50660600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:50656800-50664200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:50657200-50658600	Enhancers	Brain Anterior Caudate	brain
49	chr3:50657200-50658800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:50657200-50660200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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