Variant report

Variant	rs2962515
Chromosome Location	chr5:145561207-145561208
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:145559594..145562426-chr5:145581996..145584629,4	MCF-7	breast:
2	chr20:46414738..46416706-chr5:145560925..145562971,2	MCF-7	breast:
3	chr5:145560893..145564215-chr5:145581108..145584712,3	MCF-7	breast:
4	chr5:145559745..145561849-chr5:145588233..145589890,2	K562	blood:
5	chr5:145558307..145563846-chr5:145580315..145584343,10	K562	blood:
6	chr5:145543973..145545500-chr5:145559065..145562026,2	K562	blood:
7	chr5:145559635..145562318-chr5:145826820..145828574,2	K562	blood:
8	chr5:145559635..145563527-chr5:145825770..145828320,3	K562	blood:
9	chr5:145560592..145565120-chr5:145580444..145584486,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113649	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000091009	Chromatin interaction

Extended variants
information (count: 359 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:354)

rs_ID	r²[population]
rs10491259	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10491260	0.89[EUR][1000 genomes]
rs10491261	0.89[EUR][1000 genomes]
rs10515564	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10515565	0.81[ASN][1000 genomes]
rs10515566	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10515567	0.82[AMR][1000 genomes]
rs1054020	0.88[ASN][1000 genomes]
rs10988	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11167931	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11167932	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11167933	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11167934	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11167936	1.00[ASN][1000 genomes]
rs11167937	0.82[AMR][1000 genomes]
rs11540214	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11540215	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11540217	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11948016	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948180	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11948314	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11949351	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949352	0.89[EUR][1000 genomes]
rs11949703	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11950903	0.98[ASN][1000 genomes]
rs11951553	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11952228	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11952281	0.80[EUR][1000 genomes]
rs11952445	0.82[AMR][1000 genomes]
rs11952697	0.89[EUR][1000 genomes]
rs11953090	0.82[AMR][1000 genomes]
rs11953506	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11953517	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11953586	0.89[EUR][1000 genomes]
rs11954083	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11954297	0.82[AMR][1000 genomes]
rs11954750	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11954870	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11954923	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11954977	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11955206	0.82[AMR][1000 genomes]
rs11955443	0.82[ASN][1000 genomes]
rs11955557	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11955635	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11955695	0.83[EUR][1000 genomes]
rs11956508	0.89[EUR][1000 genomes]
rs11957830	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957888	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957907	0.83[AMR][1000 genomes]
rs11957998	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958216	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11958630	0.83[EUR][1000 genomes]
rs11958633	0.83[AMR][1000 genomes]
rs11959805	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11960510	0.89[EUR][1000 genomes]
rs12153109	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12153238	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12153364	0.82[AMR][1000 genomes]
rs12186358	0.84[ASN][1000 genomes]
rs12186642	0.90[EUR][1000 genomes]
rs12187128	0.89[EUR][1000 genomes]
rs12187277	0.82[ASN][1000 genomes]
rs12187649	0.90[EUR][1000 genomes]
rs12187913	0.89[EUR][1000 genomes]
rs12188581	0.89[EUR][1000 genomes]
rs12188772	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188941	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12189077	0.82[AMR][1000 genomes]
rs12189385	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12374516	0.88[EUR][1000 genomes]
rs12374539	0.87[EUR][1000 genomes]
rs13153675	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13153891	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13154219	0.82[AMR][1000 genomes]
rs13154547	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13154735	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155119	0.82[AMR][1000 genomes]
rs13157279	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13157784	0.81[AMR][1000 genomes]
rs13159380	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160905	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13161036	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161075	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13161488	1.00[ASN][1000 genomes]
rs13161659	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13162175	0.98[ASN][1000 genomes]
rs13162233	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13162640	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13164872	0.83[AMR][1000 genomes]
rs13164882	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13168967	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13169370	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13169390	0.84[AMR][1000 genomes]
rs13171596	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171828	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13171939	0.85[ASN][1000 genomes]
rs13172010	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13173347	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13173462	0.85[AMR][1000 genomes]
rs13174055	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13175587	1.00[ASN][1000 genomes]
rs13175806	0.88[EUR][1000 genomes]
rs13176784	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176915	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178370	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13178443	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13178516	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13178755	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178840	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13179296	0.98[ASN][1000 genomes]
rs13179517	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180113	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13180255	0.83[AMR][1000 genomes]
rs13181074	0.88[EUR][1000 genomes]
rs13181077	0.85[EUR][1000 genomes]
rs13182302	0.89[EUR][1000 genomes]
rs13182567	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13182838	0.89[EUR][1000 genomes]
rs13182948	0.83[AMR][1000 genomes]
rs13183541	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13183976	0.84[ASN][1000 genomes]
rs13184702	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13185586	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185805	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13186694	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13186701	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395276	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1395277	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1506431	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104255	0.86[ASN][1000 genomes]
rs17212373	0.88[EUR][1000 genomes]
rs17212380	0.88[EUR][1000 genomes]
rs17426845	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17427286	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17427691	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17428100	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17428465	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17428570	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17428647	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17428724	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429180	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17443315	0.81[AMR][1000 genomes]
rs17492851	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17492893	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17492950	0.86[ASN][1000 genomes]
rs17493090	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17493851	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17500456	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17500483	0.88[ASN][1000 genomes]
rs17500504	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17500927	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501177	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17501601	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17502157	0.81[AMR][1000 genomes]
rs17502233	0.82[AMR][1000 genomes]
rs17502345	0.82[AMR][1000 genomes]
rs17687490	0.82[AMR][1000 genomes]
rs17796852	0.89[EUR][1000 genomes]
rs17796858	0.89[EUR][1000 genomes]
rs17796864	0.89[EUR][1000 genomes]
rs17796870	0.89[EUR][1000 genomes]
rs17796876	0.89[EUR][1000 genomes]
rs1876189	0.98[ASN][1000 genomes]
rs1911112	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1911113	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1985600	0.89[EUR][1000 genomes]
rs2014469	0.82[AMR][1000 genomes]
rs2015248	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2024055	0.89[EUR][1000 genomes]
rs2024057	0.89[EUR][1000 genomes]
rs2053045	0.85[AMR][1000 genomes]
rs2063002	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063005	0.88[ASN][1000 genomes]
rs2240524	0.88[EUR][1000 genomes]
rs2279895	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292172	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292173	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2302036	0.89[EUR][1000 genomes]
rs2304032	0.83[AMR][1000 genomes]
rs2304033	0.82[AMR][1000 genomes]
rs2400209	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2400211	0.86[EUR][1000 genomes]
rs2895647	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2895648	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2895649	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2895650	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2939527	0.81[EUR][1000 genomes]
rs2939533	1.00[ASN][1000 genomes]
rs2939535	1.00[ASN][1000 genomes]
rs2939536	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2939539	0.88[ASN][1000 genomes]
rs2962502	0.83[ASN][1000 genomes]
rs2962503	0.88[ASN][1000 genomes]
rs2962509	0.88[ASN][1000 genomes]
rs2962510	0.85[ASN][1000 genomes]
rs2962511	0.88[ASN][1000 genomes]
rs2963914	0.88[ASN][1000 genomes]
rs2963915	0.88[ASN][1000 genomes]
rs2963918	0.88[ASN][1000 genomes]
rs2963919	0.86[ASN][1000 genomes]
rs2963920	0.86[ASN][1000 genomes]
rs2963921	0.88[ASN][1000 genomes]
rs2963922	0.88[ASN][1000 genomes]
rs2963923	0.88[ASN][1000 genomes]
rs2963924	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33914983	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34014355	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34049009	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34071526	0.89[EUR][1000 genomes]
rs34078408	0.89[EUR][1000 genomes]
rs34082425	0.82[ASN][1000 genomes]
rs34141601	0.85[ASN][1000 genomes]
rs34160255	0.89[EUR][1000 genomes]
rs34170515	0.89[EUR][1000 genomes]
rs34272709	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34342344	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34345997	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34404385	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34405762	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34444119	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34461274	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34482773	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34516108	0.89[EUR][1000 genomes]
rs34519824	0.99[ASN][1000 genomes]
rs34529192	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34530601	0.89[EUR][1000 genomes]
rs34533649	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34581962	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34601905	0.89[EUR][1000 genomes]
rs34672485	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34683303	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34774165	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34775587	0.82[AMR][1000 genomes]
rs34794113	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34794547	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34812645	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34818573	0.89[EUR][1000 genomes]
rs34818690	0.89[EUR][1000 genomes]
rs34819107	0.82[AMR][1000 genomes]
rs34848484	0.88[EUR][1000 genomes]
rs35048100	0.88[ASN][1000 genomes]
rs35048686	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35142541	0.81[AMR][1000 genomes]
rs35150639	0.89[EUR][1000 genomes]
rs35170264	0.82[ASN][1000 genomes]
rs35185759	0.83[EUR][1000 genomes]
rs35228139	0.89[EUR][1000 genomes]
rs35238125	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35262581	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35283996	0.84[EUR][1000 genomes]
rs35421100	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421875	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35424128	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35436549	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35575652	0.82[AMR][1000 genomes]
rs35581472	0.81[EUR][1000 genomes]
rs35652702	0.89[EUR][1000 genomes]
rs35658996	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35676277	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35749752	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35801832	0.89[EUR][1000 genomes]
rs35821418	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35825928	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35868039	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35869904	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35917756	0.89[EUR][1000 genomes]
rs35935643	0.85[ASN][1000 genomes]
rs36019024	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs36059140	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36095232	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36098188	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36102990	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36122632	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3749994	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3763373	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3797626	0.89[EUR][1000 genomes]
rs3797627	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3797628	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3822623	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3828935	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41338847	0.89[EUR][1000 genomes]
rs4413574	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443471	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705119	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705157	0.84[AMR][1000 genomes]
rs4705179	0.83[AMR][1000 genomes]
rs4705398	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705438	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705445	0.98[ASN][1000 genomes]
rs4913061	0.88[EUR][1000 genomes]
rs4913062	0.89[EUR][1000 genomes]
rs4913063	0.89[EUR][1000 genomes]
rs4913064	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4913065	0.82[ASN][1000 genomes]
rs4913066	0.82[ASN][1000 genomes]
rs4913067	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55665974	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55681213	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55681251	0.86[EUR][1000 genomes]
rs55726586	0.82[AMR][1000 genomes]
rs55782203	0.89[EUR][1000 genomes]
rs55799797	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55812375	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55874924	0.88[EUR][1000 genomes]
rs55909935	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55937908	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56240028	0.98[ASN][1000 genomes]
rs56278005	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56338615	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393319	0.88[EUR][1000 genomes]
rs56410805	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372766	0.81[AMR][1000 genomes]
rs62372768	0.83[AMR][1000 genomes]
rs62372769	0.82[AMR][1000 genomes]
rs62372772	0.82[AMR][1000 genomes]
rs62373771	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62373773	0.88[EUR][1000 genomes]
rs62373774	0.88[EUR][1000 genomes]
rs62373785	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62373786	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62373789	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62373798	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62373799	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62373801	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62373802	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62373809	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373810	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373811	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373812	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373813	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62373819	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373823	0.92[ASN][1000 genomes]
rs62373824	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62373831	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs66538287	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67051761	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67598659	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67829086	0.89[EUR][1000 genomes]
rs67986716	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68022863	0.84[EUR][1000 genomes]
rs6861532	0.93[ASN][1000 genomes]
rs6877277	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6878005	0.81[ASN][1000 genomes]
rs6881180	0.86[ASN][1000 genomes]
rs6882517	0.85[ASN][1000 genomes]
rs71594528	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72822286	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7443214	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711896	0.98[ASN][1000 genomes]
rs7727353	0.88[ASN][1000 genomes]
rs7728381	0.84[ASN][1000 genomes]
rs7728631	0.82[ASN][1000 genomes]
rs9918101	0.98[ASN][1000 genomes]
rs9918130	0.98[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2962515	LARS	cis	Artery Tibial	GTEx
rs2962515	LARS	cis	Nerve Tibial	GTEx
rs2962515	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs2962515	LARS	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145550600-145561600	Weak transcription	Aorta	Aorta
2	chr5:145550600-145561600	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:145559000-145561400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:145559400-145561400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:145559800-145561400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:145559800-145561600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:145560000-145561400	Enhancers	Fetal Brain Male	brain
8	chr5:145560000-145563000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr5:145560200-145561400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr5:145560200-145561400	Enhancers	Small Intestine	intestine
11	chr5:145560200-145561600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:145560200-145561600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:145560200-145563000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:145560400-145561400	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:145560400-145561400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr5:145560400-145561600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:145560400-145563000	Active TSS	HSMM	muscle
18	chr5:145560600-145561400	Enhancers	Lung	lung
19	chr5:145560600-145563000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:145560600-145563000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:145560600-145563000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:145560600-145563000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr5:145560600-145563200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:145560600-145563200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:145560600-145563200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:145560800-145561400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:145560800-145561400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:145560800-145561400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:145560800-145561400	Enhancers	Stomach Mucosa	stomach
30	chr5:145560800-145561600	Enhancers	Fetal Heart	heart
31	chr5:145560800-145562600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:145560800-145562800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:145560800-145563000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:145560800-145563000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:145560800-145563000	Active TSS	K562	blood
36	chr5:145561000-145561400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:145561000-145561400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:145561000-145561400	Enhancers	Primary B cells from cord blood	blood
39	chr5:145561000-145561400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:145561000-145561400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:145561000-145561400	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr5:145561000-145561400	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr5:145561000-145561400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr5:145561000-145561400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr5:145561000-145561400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr5:145561000-145561400	Flanking Active TSS	Fetal Brain Female	brain
47	chr5:145561000-145561400	Enhancers	Placenta	Placenta
48	chr5:145561000-145561400	Enhancers	Fetal Thymus	thymus
49	chr5:145561000-145561400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr5:145561000-145561400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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