Variant report

Variant	rs11958216
Chromosome Location	chr5:145562994-145562995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr5:145561553-145563002	K562	blood:	n/a	n/a
2	SIX5	chr5:145561638-145563103	A549	lung:	n/a	chr5:145562298-145562307 chr5:145562246-145562255 chr5:145562243-145562257 chr5:145562244-145562253 chr5:145562296-145562305
3	POLR2A	chr5:145562976-145562999	K562	blood:	n/a	n/a
4	ZNF384	chr5:145561076-145562994	K562	blood:	n/a	n/a
5	BATF	chr5:145562738-145563155	GM12878	blood:	n/a	n/a
6	ZNF384	chr5:145562087-145563168	GM12878	blood:	n/a	n/a
7	MXI1	chr5:145561490-145563020	IMR90	lung:	n/a	n/a
8	BATF	chr5:145562820-145563124	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:145561407-145563879	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:145561785-145563033	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:145562850..145566563-chr5:145571128..145574037,3	MCF-7	breast:
2	chr5:145560893..145564215-chr5:145581108..145584712,3	MCF-7	breast:
3	chr5:145558307..145563846-chr5:145580315..145584343,10	K562	blood:
4	chr5:145559635..145563527-chr5:145825770..145828320,3	K562	blood:
5	chr5:145560592..145565120-chr5:145580444..145584486,7	K562	blood:

Variant related genes	Relation type
LARS	TF binding region
ENSG00000113649	Chromatin interaction
ENSG00000091009	Chromatin interaction

Extended variants
information (count: 326 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:321)

rs_ID	r²[population]
rs10491259	0.84[EUR][1000 genomes]
rs10491260	0.84[EUR][1000 genomes]
rs10491261	0.84[EUR][1000 genomes]
rs10515564	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10515566	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10515567	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1054020	0.81[ASN][1000 genomes]
rs10988	0.85[EUR][1000 genomes]
rs11167931	0.85[EUR][1000 genomes]
rs11167932	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11167933	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11167934	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11167936	0.94[ASN][1000 genomes]
rs11167937	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11540214	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11540215	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11540217	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11948016	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11948180	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11948314	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11949351	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11949352	0.84[EUR][1000 genomes]
rs11949703	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11950903	0.91[ASN][1000 genomes]
rs11951553	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11952228	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11952445	0.81[EUR][1000 genomes]
rs11952697	0.84[EUR][1000 genomes]
rs11953090	0.81[EUR][1000 genomes]
rs11953506	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11953517	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11953586	0.84[EUR][1000 genomes]
rs11954083	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11954297	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11954750	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11954870	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11954923	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11954977	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11955206	0.80[EUR][1000 genomes]
rs11955557	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11955635	0.82[ASN][1000 genomes]
rs11955695	0.80[EUR][1000 genomes]
rs11956508	0.84[EUR][1000 genomes]
rs11957830	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11957888	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11957907	0.81[AMR][1000 genomes]
rs11957998	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11958630	0.80[EUR][1000 genomes]
rs11958633	0.81[AMR][1000 genomes]
rs11959805	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11960510	0.84[EUR][1000 genomes]
rs12153109	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12153238	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12186642	0.84[EUR][1000 genomes]
rs12187128	0.84[EUR][1000 genomes]
rs12187649	0.84[EUR][1000 genomes]
rs12187913	0.84[EUR][1000 genomes]
rs12188581	0.84[EUR][1000 genomes]
rs12188772	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12188941	0.84[EUR][1000 genomes]
rs12189077	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12189385	0.85[EUR][1000 genomes]
rs12374516	0.82[EUR][1000 genomes]
rs12374539	0.82[EUR][1000 genomes]
rs13153675	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13153891	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13154219	0.81[EUR][1000 genomes]
rs13154547	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13154735	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13155119	0.80[EUR][1000 genomes]
rs13157279	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13159380	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13160905	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13161036	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13161075	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13161488	0.94[ASN][1000 genomes]
rs13161659	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13162175	0.91[ASN][1000 genomes]
rs13162233	0.85[EUR][1000 genomes]
rs13162640	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13164872	0.81[AMR][1000 genomes]
rs13164882	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13168967	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13169370	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13169390	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13171596	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13171828	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13173347	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13173462	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13174055	0.85[EUR][1000 genomes]
rs13175587	0.94[ASN][1000 genomes]
rs13175806	0.82[EUR][1000 genomes]
rs13176784	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13176915	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13178370	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13178443	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13178516	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13178755	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13178840	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13179296	0.91[ASN][1000 genomes]
rs13179517	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13180113	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13180255	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13181074	0.83[EUR][1000 genomes]
rs13182302	0.84[EUR][1000 genomes]
rs13182567	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13182838	0.84[EUR][1000 genomes]
rs13182948	0.81[AMR][1000 genomes]
rs13183541	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13184702	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13185586	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13185805	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13186694	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13186701	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1395276	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1395277	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1506431	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17212373	0.83[EUR][1000 genomes]
rs17212380	0.83[EUR][1000 genomes]
rs17426845	0.85[EUR][1000 genomes]
rs17427286	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17427691	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17428100	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17428465	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17428570	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17428647	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17428724	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17429180	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17492851	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17492893	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17493090	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17493851	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17500456	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17500483	0.81[ASN][1000 genomes]
rs17500504	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17500927	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17501177	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17501601	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17502157	0.80[EUR][1000 genomes]
rs17502233	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17502345	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17687490	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17796852	0.84[EUR][1000 genomes]
rs17796858	0.84[EUR][1000 genomes]
rs17796864	0.84[EUR][1000 genomes]
rs17796870	0.84[EUR][1000 genomes]
rs17796876	0.84[EUR][1000 genomes]
rs1876189	0.91[ASN][1000 genomes]
rs1911112	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1911113	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1985600	0.84[EUR][1000 genomes]
rs2015248	0.85[EUR][1000 genomes]
rs2024055	0.84[EUR][1000 genomes]
rs2024057	0.84[EUR][1000 genomes]
rs2053045	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2063002	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2063005	0.81[ASN][1000 genomes]
rs2240524	0.83[EUR][1000 genomes]
rs2279895	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292172	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2292173	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2302036	0.84[EUR][1000 genomes]
rs2304032	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2304033	0.81[EUR][1000 genomes]
rs2400209	0.85[EUR][1000 genomes]
rs2400211	0.82[EUR][1000 genomes]
rs2895647	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2895648	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2895649	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2895650	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2939533	0.94[ASN][1000 genomes]
rs2939535	0.94[ASN][1000 genomes]
rs2939536	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2939539	0.81[ASN][1000 genomes]
rs2962503	0.81[ASN][1000 genomes]
rs2962509	0.81[ASN][1000 genomes]
rs2962511	0.81[ASN][1000 genomes]
rs2962515	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2963914	0.81[ASN][1000 genomes]
rs2963915	0.81[ASN][1000 genomes]
rs2963918	0.81[ASN][1000 genomes]
rs2963921	0.81[ASN][1000 genomes]
rs2963922	0.81[ASN][1000 genomes]
rs2963923	0.81[ASN][1000 genomes]
rs2963924	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs33914983	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34014355	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34049009	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34071526	0.84[EUR][1000 genomes]
rs34078408	0.84[EUR][1000 genomes]
rs34160255	0.84[EUR][1000 genomes]
rs34170515	0.84[EUR][1000 genomes]
rs34272709	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34342344	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34345997	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34404385	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34405762	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34444119	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34461274	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34482773	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34516108	0.84[EUR][1000 genomes]
rs34519824	0.93[ASN][1000 genomes]
rs34529192	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34530601	0.84[EUR][1000 genomes]
rs34533649	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34581962	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34601905	0.84[EUR][1000 genomes]
rs34672485	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34683303	0.84[EUR][1000 genomes]
rs34774165	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34775587	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34794113	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34794547	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34812645	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34818573	0.84[EUR][1000 genomes]
rs34818690	0.84[EUR][1000 genomes]
rs34819107	0.82[AMR][1000 genomes]
rs34848484	0.82[EUR][1000 genomes]
rs35048100	0.81[ASN][1000 genomes]
rs35048686	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35142541	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35150639	0.84[EUR][1000 genomes]
rs35228139	0.84[EUR][1000 genomes]
rs35238125	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35262581	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35283996	0.80[EUR][1000 genomes]
rs35421100	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35421875	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35424128	0.84[EUR][1000 genomes]
rs35436549	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35575652	0.80[EUR][1000 genomes]
rs35652702	0.84[EUR][1000 genomes]
rs35658996	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35676277	0.85[EUR][1000 genomes]
rs35749752	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35801832	0.84[EUR][1000 genomes]
rs35821418	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35825928	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35868039	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35869904	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35870798	0.80[EUR][1000 genomes]
rs35917756	0.84[EUR][1000 genomes]
rs36019024	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36059140	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36095232	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36098188	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36102990	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36122632	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3749994	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3763373	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3797626	0.84[EUR][1000 genomes]
rs3797627	0.84[EUR][1000 genomes]
rs3797628	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3822623	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3828935	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41338847	0.84[EUR][1000 genomes]
rs4413574	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4443471	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4705119	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705157	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4705179	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4705398	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705438	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705445	0.91[ASN][1000 genomes]
rs4913061	0.82[EUR][1000 genomes]
rs4913062	0.84[EUR][1000 genomes]
rs4913063	0.84[EUR][1000 genomes]
rs4913064	0.84[EUR][1000 genomes]
rs4913067	0.85[EUR][1000 genomes]
rs55665974	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55681213	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55681251	0.80[EUR][1000 genomes]
rs55782203	0.84[EUR][1000 genomes]
rs55799797	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55812375	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55874924	0.83[EUR][1000 genomes]
rs55909935	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55937908	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56240028	0.91[ASN][1000 genomes]
rs56278005	0.85[EUR][1000 genomes]
rs56338615	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56393319	0.82[EUR][1000 genomes]
rs56410805	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62372766	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62372767	0.81[EUR][1000 genomes]
rs62372768	0.81[AMR][1000 genomes]
rs62372769	0.81[EUR][1000 genomes]
rs62372772	0.80[EUR][1000 genomes]
rs62373773	0.82[EUR][1000 genomes]
rs62373774	0.82[EUR][1000 genomes]
rs62373785	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62373786	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62373789	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62373798	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62373799	0.86[EUR][1000 genomes]
rs62373801	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62373802	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62373809	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62373810	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62373811	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62373812	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62373813	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62373819	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62373823	0.93[ASN][1000 genomes]
rs62373824	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62373831	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs66538287	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67051761	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67598659	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67829086	0.84[EUR][1000 genomes]
rs67986716	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6861532	0.87[ASN][1000 genomes]
rs6877277	0.84[EUR][1000 genomes]
rs6881180	0.80[ASN][1000 genomes]
rs71594528	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72822286	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7443214	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7711896	0.91[ASN][1000 genomes]
rs7727353	0.82[ASN][1000 genomes]
rs9918101	0.91[ASN][1000 genomes]
rs9918130	0.91[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
rs11958216	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs11958216	LARS	cis	Thyroid	GTEx
rs11958216	LARS	cis	Nerve Tibial	GTEx
rs11958216	LARS	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145560000-145563000	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr5:145560200-145563000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:145560400-145563000	Active TSS	HSMM	muscle
4	chr5:145560600-145563000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:145560600-145563000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:145560600-145563000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:145560600-145563000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:145560600-145563200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:145560600-145563200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:145560600-145563200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:145560800-145563000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:145560800-145563000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:145560800-145563000	Active TSS	K562	blood
14	chr5:145561000-145563000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr5:145561000-145563000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:145561000-145563000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr5:145561000-145563000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:145561000-145563000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:145561000-145563000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr5:145561000-145563000	Active TSS	Fetal Kidney	kidney
21	chr5:145561000-145563000	Active TSS	NH-A	brain
22	chr5:145561000-145563000	Active TSS	NHLF	lung
23	chr5:145561000-145563000	Active TSS	Osteobl	bone
24	chr5:145561200-145563000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr5:145561200-145563000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:145561200-145563000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:145561200-145563000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:145561200-145563000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:145561200-145563000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:145561200-145563000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:145561200-145563000	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr5:145561200-145563000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:145561200-145563000	Active TSS	Brain Cingulate Gyrus	brain
34	chr5:145561200-145563000	Active TSS	Brain Germinal Matrix	brain
35	chr5:145561200-145563000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:145561200-145563000	Active TSS	Fetal Intestine Small	intestine
37	chr5:145561200-145563000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:145561200-145563000	Active TSS	Fetal Lung	lung
39	chr5:145561200-145563000	Active TSS	Ovary	ovary
40	chr5:145561200-145563000	Active TSS	Psoas Muscle	Psoas
41	chr5:145561200-145563000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr5:145561200-145563000	Active TSS	Right Atrium	heart
43	chr5:145561200-145563000	Active TSS	Right Ventricle	heart
44	chr5:145561200-145563000	Active TSS	A549	lung
45	chr5:145561200-145563000	Active TSS	GM12878-XiMat	blood
46	chr5:145561200-145563000	Active TSS	HepG2	liver
47	chr5:145561200-145563000	Active TSS	HMEC	breast
48	chr5:145561200-145563000	Active TSS	NHDF-Ad	bronchial
49	chr5:145561200-145563000	Active TSS	NHEK	skin
50	chr5:145561200-145563200	Active TSS	Muscle Satellite Cultured Cells	--

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