Variant report

Variant	rs4813557
Chromosome Location	chr20:25292545-25292546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25290481..25292963-chr20:25369877..25371974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100997	Chromatin interaction

Extended variants
information (count: 263 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:246)

rs_ID	r²[population]
rs1046073	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1077889	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10966	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1118963	0.93[EUR][1000 genomes]
rs1130694	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11699953	0.83[EUR][1000 genomes]
rs1555330	0.83[EUR][1000 genomes]
rs1888997	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1888998	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1888999	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2027003	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2027004	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2145126	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2151144	0.81[ASN][1000 genomes]
rs2184000	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2227890	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2227892	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257233	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257420	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257432	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257461	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257464	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257496	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2257705	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257712	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257808	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257809	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257982	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257985	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257988	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2257991	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2258066	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2258135	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2258201	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2258563	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258617	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2258719	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2258728	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258769	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258879	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258884	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259837	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259873	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2259926	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259928	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259956	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2260997	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2261109	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2261115	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2261698	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2261720	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2261747	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2261753	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2261784	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2261785	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2261790	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2261794	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2261796	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2263204	0.82[EUR][1000 genomes]
rs2297496	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2297497	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2387880	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2387881	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2387882	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2387883	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2387884	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2424698	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2424699	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2424700	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424704	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424708	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2424710	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2424711	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2424712	0.81[ASN][1000 genomes]
rs2424714	0.81[ASN][1000 genomes]
rs2424715	0.81[ASN][1000 genomes]
rs2474766	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2474769	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2474777	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2482911	0.82[EUR][1000 genomes]
rs2482913	0.82[EUR][1000 genomes]
rs2482918	0.80[EUR][1000 genomes]
rs2482919	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2482923	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2482927	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2482928	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2482930	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2482931	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2482932	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2482937	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2482940	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2482941	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2482943	0.83[EUR][1000 genomes]
rs2482948	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2500399	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2500400	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2500401	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2500404	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2500405	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2500417	0.83[EUR][1000 genomes]
rs2500418	0.83[EUR][1000 genomes]
rs2500424	0.82[EUR][1000 genomes]
rs2500430	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2500432	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500433	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2500436	0.82[EUR][1000 genomes]
rs2500443	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2500446	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2500448	0.82[EUR][1000 genomes]
rs2990512	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3002698	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3002702	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33999482	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34645895	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3761117	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs397119	0.81[ASN][1000 genomes]
rs398036	0.81[ASN][1000 genomes]
rs416745	0.81[ASN][1000 genomes]
rs4355182	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs448396	0.81[ASN][1000 genomes]
rs453329	0.81[ASN][1000 genomes]
rs454723	0.81[ASN][1000 genomes]
rs4619688	0.93[EUR][1000 genomes]
rs4813561	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4813562	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4813563	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4813566	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815404	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4815405	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4815407	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815408	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815409	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815411	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815412	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815414	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815417	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815418	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815420	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815421	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4815423	0.81[ASN][1000 genomes]
rs4815424	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815426	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6037062	0.80[EUR][1000 genomes]
rs6037069	0.90[EUR][1000 genomes]
rs6037083	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037085	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6037086	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6037095	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6037096	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6037097	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6037099	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6037103	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6037105	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050481	0.93[EUR][1000 genomes]
rs6050482	0.90[EUR][1000 genomes]
rs6050532	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6050535	0.85[ASN][1000 genomes]
rs6050542	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6050544	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6050547	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6050555	0.90[ASN][1000 genomes]
rs6050556	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6050559	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6050561	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6050562	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6050563	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6050564	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050565	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050566	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050567	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050573	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050583	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050590	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050595	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6050598	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6050599	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6050600	0.81[ASN][1000 genomes]
rs6050602	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6050609	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6050617	0.81[ASN][1000 genomes]
rs6076336	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6076339	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6076345	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6076346	0.81[ASN][1000 genomes]
rs6083799	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6083801	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083804	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083805	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083809	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083813	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083817	0.80[EUR][1000 genomes]
rs6083818	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083825	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083828	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6083844	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6083847	0.81[ASN][1000 genomes]
rs6083853	0.81[EUR][1000 genomes]
rs6083855	0.80[AMR][1000 genomes]
rs6083856	0.82[EUR][1000 genomes]
rs6083862	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6107015	0.90[EUR][1000 genomes]
rs6107017	0.83[EUR][1000 genomes]
rs6107019	0.89[EUR][1000 genomes]
rs6107031	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6107033	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6115093	0.86[EUR][1000 genomes]
rs6115099	0.82[EUR][1000 genomes]
rs6115100	0.93[EUR][1000 genomes]
rs6115101	0.93[EUR][1000 genomes]
rs6115109	0.93[EUR][1000 genomes]
rs6115118	0.82[EUR][1000 genomes]
rs6115140	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6115146	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6115153	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6115159	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6115182	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6132819	0.90[EUR][1000 genomes]
rs6132820	0.93[EUR][1000 genomes]
rs6132821	0.83[EUR][1000 genomes]
rs6132824	0.83[EUR][1000 genomes]
rs6132826	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6138545	0.87[EUR][1000 genomes]
rs6138546	0.89[EUR][1000 genomes]
rs6138550	0.93[EUR][1000 genomes]
rs6138553	0.93[EUR][1000 genomes]
rs6138554	0.86[EUR][1000 genomes]
rs6138555	0.83[EUR][1000 genomes]
rs6138556	0.93[EUR][1000 genomes]
rs6515651	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66999585	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7019	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7020	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7267979	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7268053	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7343481	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7453	0.82[EUR][1000 genomes]
rs8113919	0.82[EUR][1000 genomes]
rs8113968	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8123949	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8125868	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8184820	0.83[EUR][1000 genomes]
rs884613	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs910996	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs910997	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9927	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	esv1798601	chr20:25250122-25305949	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4813557	GINS1	Cis_1M	lymphoblastoid	RTeQTL
rs4813557	PYGB	cis	multi-tissue	Pritchard
rs4813557	ABHD12	Cis_1M	lymphoblastoid	RTeQTL
rs4813557	ABHD12	cis	Nerve Tibial	GTEx
rs4813557	ABHD12	cis	multi-tissue	Pritchard
rs4813557	PYGB	cis	Whole Blood	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25256000-25299400	Weak transcription	Fetal Brain Male	brain
2	chr20:25278800-25305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:25284600-25304000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:25288400-25294400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:25289200-25292600	Enhancers	Stomach Mucosa	stomach
6	chr20:25289200-25304600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr20:25289400-25292600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr20:25289400-25302400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr20:25289600-25293000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:25289800-25292600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:25289800-25299400	Weak transcription	Brain Germinal Matrix	brain
12	chr20:25290000-25292600	Enhancers	Fetal Intestine Small	intestine
13	chr20:25290000-25294400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr20:25290200-25292600	Enhancers	Placenta	Placenta
15	chr20:25290200-25292800	Enhancers	Fetal Thymus	thymus
16	chr20:25290200-25293000	Enhancers	Spleen	Spleen
17	chr20:25290200-25297000	Weak transcription	Fetal Brain Female	brain
18	chr20:25290600-25292600	Enhancers	Fetal Muscle Trunk	muscle
19	chr20:25290800-25292600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr20:25290800-25292800	Enhancers	Fetal Muscle Leg	muscle
21	chr20:25290800-25300200	Weak transcription	Fetal Lung	lung
22	chr20:25291000-25292600	Enhancers	Fetal Intestine Large	intestine
23	chr20:25291400-25294400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr20:25291600-25293000	Enhancers	Small Intestine	intestine
25	chr20:25291600-25294400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr20:25291600-25298200	Weak transcription	Primary B cells from cord blood	blood
27	chr20:25291800-25292600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr20:25291800-25292600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr20:25291800-25293000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr20:25291800-25294800	Weak transcription	Pancreas	Pancrea
31	chr20:25291800-25295200	Weak transcription	Fetal Kidney	kidney
32	chr20:25291800-25297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr20:25292000-25292600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr20:25292000-25292600	Enhancers	Colon Smooth Muscle	Colon
35	chr20:25292000-25292600	Enhancers	Stomach Smooth Muscle	stomach
36	chr20:25292000-25292600	Enhancers	GM12878-XiMat	blood
37	chr20:25292000-25292800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:25292000-25292800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:25292000-25292800	Enhancers	NHLF	lung
40	chr20:25292000-25293000	Enhancers	Brain Hippocampus Middle	brain
41	chr20:25292000-25294400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr20:25292000-25295400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr20:25292000-25297200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr20:25292000-25298400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr20:25292000-25299600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr20:25292000-25310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr20:25292000-25325200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr20:25292000-25327400	Weak transcription	Aorta	Aorta
49	chr20:25292200-25292600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr20:25292200-25292600	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links