Variant report

Variant	rs2257420
Chromosome Location	chr20:25275890-25275891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25274484..25277309-chr20:25281088..25284844,3	MCF-7	breast:
2	chr20:25226304..25227809-chr20:25275139..25278038,2	MCF-7	breast:
3	chr20:25275341..25277928-chr20:25277933..25279564,2	MCF-7	breast:
4	chr20:25274695..25276551-chr20:25281510..25283140,2	K562	blood:
5	chr20:25274719..25277448-chr20:25283422..25285264,2	K562	blood:
6	chr20:25275140..25276137-chr20:25379287..25380023,3	MCF-7	breast:
7	chr20:25275257..25278068-chr20:25368831..25372041,3	MCF-7	breast:
8	chr20:25268858..25271489-chr20:25274837..25276985,3	K562	blood:
9	chr20:25268242..25271489-chr20:25274837..25277116,3	K562	blood:
10	chr20:25274373..25276866-chr20:25369511..25371754,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100994	Chromatin interaction
ENSG00000100997	Chromatin interaction

Extended variants
information (count: 236 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:218)

rs_ID	r²[population]
rs1046073	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1077889	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10966	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11100	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1118963	0.92[EUR][1000 genomes]
rs1130694	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11699953	0.82[EUR][1000 genomes]
rs1555330	0.82[EUR][1000 genomes]
rs1888997	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1888998	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1888999	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2027003	0.88[EUR][1000 genomes]
rs2027004	0.88[EUR][1000 genomes]
rs2145126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2227890	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2227892	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257233	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257461	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257496	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257712	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257982	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2257991	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258066	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258135	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258201	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258719	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2258728	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258879	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2258884	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2259837	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2259873	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2259926	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2259928	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2259956	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2260997	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2261109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261115	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261698	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261720	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261747	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2261753	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261784	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261785	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261790	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261794	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261796	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2263204	0.81[EUR][1000 genomes]
rs2297496	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2297497	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2387880	0.81[EUR][1000 genomes]
rs2387881	0.82[EUR][1000 genomes]
rs2387882	0.81[EUR][1000 genomes]
rs2387883	0.81[EUR][1000 genomes]
rs2387884	0.81[EUR][1000 genomes]
rs2424698	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424699	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424700	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2424704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424708	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424710	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424711	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2474766	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2474769	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2474777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2482911	0.81[EUR][1000 genomes]
rs2482913	0.81[EUR][1000 genomes]
rs2482919	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2482923	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2482927	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2482928	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2482930	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2482931	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2482932	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2482937	0.89[EUR][1000 genomes]
rs2482940	0.88[EUR][1000 genomes]
rs2482941	0.88[EUR][1000 genomes]
rs2482943	0.82[EUR][1000 genomes]
rs2482948	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2500399	0.88[EUR][1000 genomes]
rs2500400	0.88[EUR][1000 genomes]
rs2500401	0.88[EUR][1000 genomes]
rs2500404	0.87[EUR][1000 genomes]
rs2500405	0.88[EUR][1000 genomes]
rs2500417	0.82[EUR][1000 genomes]
rs2500418	0.82[EUR][1000 genomes]
rs2500424	0.81[EUR][1000 genomes]
rs2500430	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2500432	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2500433	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2500436	0.81[EUR][1000 genomes]
rs2500443	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2500446	0.90[EUR][1000 genomes]
rs2500448	0.81[EUR][1000 genomes]
rs2990512	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3002698	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3002702	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33999482	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34645895	0.82[EUR][1000 genomes]
rs3761117	0.81[EUR][1000 genomes]
rs4355182	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4619688	0.92[EUR][1000 genomes]
rs4813557	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4813561	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4813562	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4813563	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4813566	0.81[EUR][1000 genomes]
rs4815404	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4815405	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815407	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815408	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815409	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815411	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815412	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815414	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815417	0.81[EUR][1000 genomes]
rs4815418	0.81[EUR][1000 genomes]
rs4815420	0.81[EUR][1000 genomes]
rs4815424	0.81[EUR][1000 genomes]
rs6037062	0.80[EUR][1000 genomes]
rs6037069	0.90[EUR][1000 genomes]
rs6037083	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6037085	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6037086	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6037095	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6037096	0.84[EUR][1000 genomes]
rs6037097	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6037099	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6037103	0.84[EUR][1000 genomes]
rs6037105	0.80[EUR][1000 genomes]
rs6050481	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6050482	0.90[EUR][1000 genomes]
rs6050532	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6050535	0.85[ASN][1000 genomes]
rs6050542	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050544	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050547	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050555	0.85[ASN][1000 genomes]
rs6050556	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050559	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050561	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050562	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050563	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6050564	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050565	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050566	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050567	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050573	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6050583	0.81[EUR][1000 genomes]
rs6050590	0.81[EUR][1000 genomes]
rs6076336	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6076339	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6076345	0.81[EUR][1000 genomes]
rs6083799	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6083801	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083804	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083805	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083809	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083813	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083817	0.80[EUR][1000 genomes]
rs6083818	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6083825	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6083828	0.82[EUR][1000 genomes]
rs6083844	0.81[EUR][1000 genomes]
rs6083853	0.80[EUR][1000 genomes]
rs6083856	0.81[EUR][1000 genomes]
rs6107015	0.89[EUR][1000 genomes]
rs6107017	0.82[EUR][1000 genomes]
rs6107019	0.88[EUR][1000 genomes]
rs6107031	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6107033	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6115093	0.85[EUR][1000 genomes]
rs6115099	0.81[EUR][1000 genomes]
rs6115100	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6115101	0.92[EUR][1000 genomes]
rs6115109	0.92[EUR][1000 genomes]
rs6115118	0.81[EUR][1000 genomes]
rs6115140	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6115146	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6115153	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6115159	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6132819	0.89[EUR][1000 genomes]
rs6132820	0.92[EUR][1000 genomes]
rs6132821	0.82[EUR][1000 genomes]
rs6132824	0.82[EUR][1000 genomes]
rs6132826	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6138545	0.86[EUR][1000 genomes]
rs6138546	0.88[EUR][1000 genomes]
rs6138550	0.92[EUR][1000 genomes]
rs6138553	0.92[EUR][1000 genomes]
rs6138554	0.85[EUR][1000 genomes]
rs6138555	0.82[EUR][1000 genomes]
rs6138556	0.92[EUR][1000 genomes]
rs66999585	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7019	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7020	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7267979	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7268053	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7343481	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7453	0.82[EUR][1000 genomes]
rs8113919	0.81[EUR][1000 genomes]
rs8113968	0.82[EUR][1000 genomes]
rs8123949	0.81[EUR][1000 genomes]
rs8125868	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8184820	0.82[EUR][1000 genomes]
rs884613	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs910996	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs910997	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9927	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
18	nsv912827	chr20:25271326-25288632	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2257420	PYGB	cis	Whole Blood	GTEx
rs2257420	PYGB	cis	multi-tissue	Pritchard
rs2257420	ABHD12	cis	multi-tissue	Pritchard
rs2257420	ABHD12	Cis_1M	lymphoblastoid	RTeQTL
rs2257420	ABHD12	cis	Nerve Tibial	GTEx
rs2257420	GINS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25230400-25291600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:25235600-25291200	Weak transcription	Fetal Kidney	kidney
3	chr20:25247600-25277400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr20:25249000-25280200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:25249200-25285800	Strong transcription	Dnd41	blood
6	chr20:25249400-25276200	Strong transcription	Fetal Intestine Large	intestine
7	chr20:25249600-25279000	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr20:25249600-25279400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:25249600-25284800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr20:25249600-25285200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr20:25249800-25276400	Strong transcription	Fetal Intestine Small	intestine
12	chr20:25249800-25284400	Strong transcription	Brain Germinal Matrix	brain
13	chr20:25250600-25276200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr20:25250800-25285000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:25252200-25276400	Weak transcription	Hela-S3	cervix
16	chr20:25254000-25276200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:25254400-25287800	Weak transcription	K562	blood
18	chr20:25255600-25279200	Strong transcription	Fetal Brain Female	brain
19	chr20:25255800-25290000	Weak transcription	Small Intestine	intestine
20	chr20:25256000-25299400	Weak transcription	Fetal Brain Male	brain
21	chr20:25259000-25290800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr20:25261600-25291000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr20:25266600-25291200	Weak transcription	Primary B cells from cord blood	blood
24	chr20:25267000-25291200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr20:25267600-25276400	Weak transcription	HUVEC	blood vessel
26	chr20:25267600-25279200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr20:25269200-25281600	Weak transcription	Liver	Liver
28	chr20:25270400-25278800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr20:25270800-25277200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr20:25271400-25279600	Genic enhancers	HMEC	breast
31	chr20:25271400-25290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr20:25271600-25291200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:25271800-25276800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:25272200-25276400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr20:25272400-25277000	Weak transcription	Ovary	ovary
36	chr20:25272400-25277600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr20:25272600-25277000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr20:25272800-25276200	Weak transcription	Fetal Lung	lung
39	chr20:25272800-25276400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr20:25272800-25276800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr20:25272800-25276800	Weak transcription	NH-A	brain
42	chr20:25272800-25277000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr20:25272800-25282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr20:25273000-25276200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:25273200-25276600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr20:25273400-25277400	Genic enhancers	NHEK	skin
47	chr20:25273400-25277600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr20:25273400-25277800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr20:25273400-25278000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr20:25273400-25287200	Weak transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links