Variant report

Variant	rs2962511
Chromosome Location	chr5:145552542-145552543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145525794..145527740-chr5:145551579..145553885,3	K562	blood:
2	chr5:145551052..145554687-chr5:145559207..145562583,5	K562	blood:
3	chr5:145544700..145547234-chr5:145551344..145553851,2	K562	blood:
4	chr5:145549719..145552981-chr5:145557063..145560291,4	MCF-7	breast:
5	chr5:145551306..145553774-chr5:145557195..145559625,2	K562	blood:
6	chr5:145551516..145553977-chr5:145559737..145562085,2	K562	blood:

Variant related genes	Relation type
ENSG00000133706	Chromatin interaction

Extended variants
information (count: 304 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:299)

rs_ID	r²[population]
rs1006204	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10491259	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10491260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10491261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10515564	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10515565	0.84[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs10515566	1.00[CHB][hapmap]
rs10515567	0.90[CHB][hapmap];0.97[CHD][hapmap]
rs1054020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988	0.96[ASN][1000 genomes]
rs11167931	0.96[ASN][1000 genomes]
rs11167932	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11167933	1.00[ASN][1000 genomes]
rs11167934	1.00[ASN][1000 genomes]
rs11167936	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11167937	1.00[CHB][hapmap]
rs11540214	1.00[ASN][1000 genomes]
rs11540215	0.88[ASN][1000 genomes]
rs11540217	1.00[ASN][1000 genomes]
rs11948016	0.88[ASN][1000 genomes]
rs11948180	1.00[ASN][1000 genomes]
rs11948314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11949351	0.88[ASN][1000 genomes]
rs11949352	0.90[ASN][1000 genomes]
rs11949703	1.00[ASN][1000 genomes]
rs11950903	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11951553	1.00[ASN][1000 genomes]
rs11952228	0.97[ASN][1000 genomes]
rs11952281	0.86[ASN][1000 genomes]
rs11952697	0.92[ASN][1000 genomes]
rs11953090	1.00[CHB][hapmap];0.96[CHD][hapmap]
rs11953506	1.00[CHB][hapmap]
rs11953517	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11954083	1.00[ASN][1000 genomes]
rs11954297	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs11954750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11954870	1.00[ASN][1000 genomes]
rs11954923	1.00[ASN][1000 genomes]
rs11954977	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11955443	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11955557	0.86[ASN][1000 genomes]
rs11955635	0.99[ASN][1000 genomes]
rs11955695	0.83[ASN][1000 genomes]
rs11957830	0.88[ASN][1000 genomes]
rs11957888	0.88[ASN][1000 genomes]
rs11957998	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11958136	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs11958216	0.81[ASN][1000 genomes]
rs11958630	0.88[ASN][1000 genomes]
rs11959805	0.98[ASN][1000 genomes]
rs11960510	1.00[JPT][hapmap]
rs12153109	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12153238	1.00[ASN][1000 genomes]
rs12186358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12186642	0.92[ASN][1000 genomes]
rs12187128	0.92[ASN][1000 genomes]
rs12187277	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs12187649	0.92[ASN][1000 genomes]
rs12187913	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12188066	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12188581	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12188772	0.88[ASN][1000 genomes]
rs12188941	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12189385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12374457	0.96[CEU][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs12374538	0.96[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs13153675	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13154547	1.00[ASN][1000 genomes]
rs13154735	0.88[ASN][1000 genomes]
rs13155119	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs13157279	0.88[ASN][1000 genomes]
rs13159380	0.88[ASN][1000 genomes]
rs13161036	0.88[ASN][1000 genomes]
rs13161075	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13161488	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13161659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13162175	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13162233	0.94[ASN][1000 genomes]
rs13162640	0.99[ASN][1000 genomes]
rs13164882	1.00[ASN][1000 genomes]
rs13171596	0.88[ASN][1000 genomes]
rs13171828	0.92[ASN][1000 genomes]
rs13171939	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap]
rs13172010	0.95[ASN][1000 genomes]
rs13173462	0.91[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap]
rs13174055	0.94[ASN][1000 genomes]
rs13175587	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13175806	0.90[ASN][1000 genomes]
rs13176784	0.88[ASN][1000 genomes]
rs13176915	0.88[ASN][1000 genomes]
rs13178370	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13178516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13178755	0.88[ASN][1000 genomes]
rs13178840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13179296	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13179517	0.88[ASN][1000 genomes]
rs13180113	1.00[ASN][1000 genomes]
rs13180255	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs13181074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13182302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13182567	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13182838	0.92[ASN][1000 genomes]
rs13183976	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap]
rs13184702	1.00[ASN][1000 genomes]
rs13185586	0.88[ASN][1000 genomes]
rs13185805	0.99[ASN][1000 genomes]
rs13186694	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13186701	0.88[ASN][1000 genomes]
rs1395276	0.98[ASN][1000 genomes]
rs1395277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1506431	0.85[ASN][1000 genomes]
rs1567057	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs17104255	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17212373	1.00[JPT][hapmap]
rs17426845	0.96[ASN][1000 genomes]
rs17427286	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17427691	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17428100	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17428465	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17428570	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17428647	0.88[ASN][1000 genomes]
rs17428724	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17429180	1.00[CHB][hapmap]
rs17492851	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17492893	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17492950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17493090	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17493851	1.00[ASN][1000 genomes]
rs17500456	1.00[ASN][1000 genomes]
rs17500483	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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500504	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17500927	0.88[ASN][1000 genomes]
rs17501177	1.00[CHB][hapmap]
rs17796852	0.94[JPT][hapmap]
rs17796858	1.00[JPT][hapmap]
rs17796864	1.00[JPT][hapmap]
rs17796870	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs1876189	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1911112	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1911113	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2015248	0.94[ASN][1000 genomes]
rs2024055	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs2024056	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2024057	1.00[JPT][hapmap]
rs2063002	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2063005	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116749	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2279895	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2292172	1.00[ASN][1000 genomes]
rs2292173	1.00[ASN][1000 genomes]
rs2302036	1.00[JPT][hapmap]
rs2304032	1.00[CHB][hapmap]
rs2304033	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap]
rs2400209	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2400211	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2895647	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2895648	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2895649	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2895650	1.00[ASN][1000 genomes]
rs2939523	0.85[CHB][hapmap];0.87[CHD][hapmap];0.84[TSI][hapmap]
rs2939527	0.87[ASN][1000 genomes]
rs2939533	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2939535	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2939536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2939539	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2962502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2962503	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2962509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2962510	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2962515	0.88[ASN][1000 genomes]
rs2963914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963918	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963919	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2963920	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2963921	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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963922	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963923	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963924	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs33914983	0.88[ASN][1000 genomes]
rs34014355	0.88[ASN][1000 genomes]
rs34049009	1.00[ASN][1000 genomes]
rs34160255	0.90[ASN][1000 genomes]
rs34170515	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs34272709	1.00[ASN][1000 genomes]
rs34342344	1.00[ASN][1000 genomes]
rs34345997	1.00[ASN][1000 genomes]
rs34404385	1.00[ASN][1000 genomes]
rs34405762	0.88[ASN][1000 genomes]
rs34461274	0.99[ASN][1000 genomes]
rs34482773	1.00[ASN][1000 genomes]
rs34516108	0.90[ASN][1000 genomes]
rs34519824	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34529192	1.00[ASN][1000 genomes]
rs34533649	0.85[ASN][1000 genomes]
rs34581962	1.00[ASN][1000 genomes]
rs34601905	0.92[ASN][1000 genomes]
rs34672485	1.00[ASN][1000 genomes]
rs34683303	0.98[ASN][1000 genomes]
rs34774165	0.99[ASN][1000 genomes]
rs34794113	1.00[ASN][1000 genomes]
rs34794547	1.00[ASN][1000 genomes]
rs35048100	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35048686	0.88[ASN][1000 genomes]
rs35185759	0.91[ASN][1000 genomes]
rs35238125	1.00[ASN][1000 genomes]
rs35262581	1.00[ASN][1000 genomes]
rs35291206	0.84[EUR][1000 genomes]
rs35421100	0.88[ASN][1000 genomes]
rs35421875	0.97[ASN][1000 genomes]
rs35424128	0.96[ASN][1000 genomes]
rs35436549	1.00[ASN][1000 genomes]
rs35652702	0.92[ASN][1000 genomes]
rs35658996	1.00[ASN][1000 genomes]
rs35676277	0.96[ASN][1000 genomes]
rs35749752	1.00[ASN][1000 genomes]
rs35801832	0.92[ASN][1000 genomes]
rs35821418	1.00[ASN][1000 genomes]
rs35825928	0.98[ASN][1000 genomes]
rs35868039	1.00[ASN][1000 genomes]
rs35869904	1.00[ASN][1000 genomes]
rs36059140	1.00[ASN][1000 genomes]
rs36095232	1.00[ASN][1000 genomes]
rs36098188	1.00[ASN][1000 genomes]
rs36102990	1.00[ASN][1000 genomes]
rs36122632	1.00[ASN][1000 genomes]
rs3749994	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3763373	0.92[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs3797628	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3822623	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs3828935	0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs41338847	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4413574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4443471	0.88[ASN][1000 genomes]
rs4705119	1.00[ASN][1000 genomes]
rs4705156	0.88[CEU][hapmap];0.92[CHB][hapmap]
rs4705179	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs4705398	1.00[ASN][1000 genomes]
rs4705438	1.00[ASN][1000 genomes]
rs4705445	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4913063	0.92[ASN][1000 genomes]
rs4913064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4913065	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4913066	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4913067	0.94[ASN][1000 genomes]
rs55665974	0.88[ASN][1000 genomes]
rs55681213	1.00[ASN][1000 genomes]
rs55681251	0.87[ASN][1000 genomes]
rs55782203	0.92[ASN][1000 genomes]
rs55799797	0.85[ASN][1000 genomes]
rs55812375	0.98[ASN][1000 genomes]
rs55909935	0.88[ASN][1000 genomes]
rs56240028	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56278005	0.96[ASN][1000 genomes]
rs56338521	0.84[EUR][1000 genomes]
rs56338615	0.88[ASN][1000 genomes]
rs56410805	0.88[ASN][1000 genomes]
rs62373771	0.96[ASN][1000 genomes]
rs62373773	0.84[ASN][1000 genomes]
rs62373774	0.84[ASN][1000 genomes]
rs62373785	1.00[ASN][1000 genomes]
rs62373786	1.00[ASN][1000 genomes]
rs62373789	1.00[ASN][1000 genomes]
rs62373798	1.00[ASN][1000 genomes]
rs62373799	0.98[ASN][1000 genomes]
rs62373801	1.00[ASN][1000 genomes]
rs62373802	1.00[ASN][1000 genomes]
rs62373809	0.88[ASN][1000 genomes]
rs62373810	0.88[ASN][1000 genomes]
rs62373811	0.88[ASN][1000 genomes]
rs62373812	0.88[ASN][1000 genomes]
rs62373813	0.87[ASN][1000 genomes]
rs62373819	0.88[ASN][1000 genomes]
rs62373824	0.85[ASN][1000 genomes]
rs6580408	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66538287	1.00[ASN][1000 genomes]
rs67051761	1.00[ASN][1000 genomes]
rs67598659	1.00[ASN][1000 genomes]
rs67829086	0.90[ASN][1000 genomes]
rs67986716	0.99[ASN][1000 genomes]
rs6861532	0.81[ASN][1000 genomes]
rs6862371	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6877277	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6878005	0.83[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.89[TSI][hapmap]
rs6881180	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs6892928	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71594528	0.88[ASN][1000 genomes]
rs72820460	0.83[ASN][1000 genomes]
rs72822286	1.00[ASN][1000 genomes]
rs7443214	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7711896	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7722258	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs7725078	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7727353	0.81[EUR][1000 genomes]
rs7728381	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];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7728631	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7729098	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap]
rs9918101	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9918130	0.86[CEU][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3348501	chr5:145543808-145572250	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2962511	LARS	cis	Thyroid	GTEx
rs2962511	LARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:145491200-145552600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
8	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:145491600-145557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:145495800-145559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:145499000-145557400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:145511600-145552800	Strong transcription	Fetal Thymus	thymus
16	chr5:145511600-145556800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:145515800-145557400	Strong transcription	Liver	Liver
18	chr5:145517000-145553000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:145518800-145552800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:145519200-145558200	Strong transcription	Dnd41	blood
21	chr5:145526200-145553000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr5:145526800-145554000	Strong transcription	Adipose Nuclei	Adipose
23	chr5:145532200-145559600	Weak transcription	Small Intestine	intestine
24	chr5:145532200-145561000	Weak transcription	Esophagus	oesophagus
25	chr5:145534800-145553400	Strong transcription	NHDF-Ad	bronchial
26	chr5:145535200-145559600	Strong transcription	Fetal Muscle Leg	muscle
27	chr5:145535400-145553600	Strong transcription	Osteobl	bone
28	chr5:145535600-145559600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:145536400-145553800	Strong transcription	K562	blood
30	chr5:145537800-145560800	Weak transcription	Fetal Heart	heart
31	chr5:145541000-145560400	Weak transcription	Right Atrium	heart
32	chr5:145541600-145553600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:145542400-145556000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr5:145542600-145559600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:145542600-145560200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:145542600-145560400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:145542600-145560600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:145542800-145559600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:145542800-145561200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:145543000-145560200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:145543600-145560400	Weak transcription	Brain Angular Gyrus	brain
42	chr5:145544000-145560400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:145544000-145560400	Weak transcription	Psoas Muscle	Psoas
44	chr5:145544600-145559400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:145545600-145557400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:145545800-145557800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:145546200-145558200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:145546200-145560200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr5:145546200-145560400	Weak transcription	Pancreas	Pancrea
50	chr5:145546400-145558800	Weak transcription	Brain Germinal Matrix	brain

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