Variant report

Variant	rs1506431
Chromosome Location	chr5:145582532-145582533
allele	C/G
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	NFYA	chr5:145582527-145583436	K562	blood:	n/a	chr5:145583045-145583063
2	MAFK	chr5:145582425-145583257	K562	blood:	n/a	chr5:145582767-145582777
3	POLR2A	chr5:145582128-145583699	Raji	blood:	n/a	n/a
4	MAFF	chr5:145582522-145582919	K562	blood:	n/a	n/a
5	YY1	chr5:145582501-145583624	GM12892	blood:	n/a	chr5:145583449-145583460 chr5:145582883-145582897 chr5:145582913-145582924 chr5:145583469-145583478 chr5:145582950-145582962 chr5:145582889-145582898
6	POLR2A	chr5:145582525-145583398	PFSK-1	brain:	n/a	n/a
7	YY1	chr5:145582477-145583312	SK-N-SH_RA	brain:	n/a	chr5:145582883-145582897 chr5:145582913-145582924 chr5:145582950-145582962 chr5:145582889-145582898
8	FOS	chr5:145582457-145583213	MCF10A-Er-Src	breast:	n/a	chr5:145582770-145582777 chr5:145582768-145582778 chr5:145582767-145582778 chr5:145582885-145582894 chr5:145582769-145582777 chr5:145582769-145582777
9	FOS	chr5:145581908-145583201	MCF10A-Er-Src	breast:	n/a	chr5:145582770-145582777 chr5:145582768-145582778 chr5:145582767-145582778 chr5:145582885-145582894 chr5:145582769-145582777 chr5:145582769-145582777
10	GATA3	chr5:145582500-145583439	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr5:145582080-145584012	GM12891	blood:	n/a	n/a
12	MYC	chr5:145582448-145583325	K562	blood:	n/a	chr5:145582768-145582777
13	RUNX3	chr5:145582476-145583394	GM12878	blood:	n/a	n/a
14	PBX3	chr5:145582504-145583535	SK-N-SH	brain:	n/a	chr5:145583088-145583108
15	POLR2A	chr5:145582519-145582943	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr5:145582421-145583388	GM12878	blood:	n/a	n/a
17	REST	chr5:145582360-145584033	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr5:145582489-145583394	GM12891	blood:	n/a	n/a
19	POLR2A	chr5:145582480-145583619	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL3	chr5:145582511-145582937	GM12878	blood:	n/a	chr5:145582769-145582778 chr5:145582882-145582895 chr5:145582885-145582898
21	MAX	chr5:145582358-145583796	HCT-116	colon:	n/a	chr5:145583463-145583472 chr5:145582768-145582777 chr5:145583444-145583453
22	POLR2A	chr5:145582525-145583441	GM12878	blood:	n/a	n/a
23	BCLAF1	chr5:145582508-145583443	GM12878	blood:	n/a	chr5:145582769-145582778 chr5:145583026-145583039 chr5:145582882-145582895 chr5:145582885-145582898 chr5:145583026-145583039
24	ARID3A	chr5:145582474-145583196	HepG2	liver:	n/a	n/a
25	TEAD4	chr5:145582363-145583805	K562	blood:	n/a	n/a
26	POLR2A	chr5:145582477-145583433	HCT-116	colon:	n/a	n/a
27	IRF1	chr5:145581970-145583815	K562	blood:	n/a	chr5:145582361-145582375
28	JUN	chr5:145582482-145582804	H1-hESC	embryonic stem cell:	n/a	chr5:145582770-145582777 chr5:145582768-145582778 chr5:145582769-145582777 chr5:145582769-145582777
29	MXI1	chr5:145582530-145583672	HepG2	liver:	n/a	n/a
30	POLR2A	chr5:145582511-145583420	K562	blood:	n/a	n/a
31	TAF1	chr5:145582410-145583452	ECC-1	luminal epithelium:	n/a	n/a
32	HCFC1	chr5:145581856-145584315	Hela-S3	cervix:	n/a	n/a
33	BACH1	chr5:145582529-145582857	K562	blood:	n/a	n/a
34	TEAD4	chr5:145582510-145583029	H1-hESC	embryonic stem cell:	n/a	n/a
35	STAT1	chr5:145582511-145583372	Hela-S3	cervix:	n/a	chr5:145582796-145582807 chr5:145582795-145582809
36	IRF1	chr5:145582171-145584232	K562	blood:	n/a	chr5:145583876-145583890 chr5:145582361-145582375
37	POLR2A	chr5:145582531-145583405	GM12892	blood:	n/a	n/a
38	SIN3AK20	chr5:145582496-145583549	MCF-7	breast:	n/a	n/a
39	MYBL2	chr5:145582504-145583409	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:145582512-145583361	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr5:145582529-145583694	K562	blood:	n/a	n/a
42	POLR2A	chr5:145582497-145583788	K562	blood:	n/a	n/a
43	E2F4	chr5:145582431-145583282	MCF10A-Er-Src	breast:	n/a	chr5:145583030-145583039 chr5:145582908-145582915
44	JUND	chr5:145582511-145582898	HepG2	liver:	n/a	chr5:145582770-145582777 chr5:145582768-145582778 chr5:145582885-145582894 chr5:145582769-145582777 chr5:145582769-145582777 chr5:145582767-145582778
45	MAX	chr5:145582404-145583521	HepG2	liver:	n/a	chr5:145583463-145583472 chr5:145582768-145582777 chr5:145583444-145583453
46	TAF1	chr5:145582484-145583516	A549	lung:	n/a	n/a
47	TAF1	chr5:145582497-145583439	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr5:145582403-145583398	U87	brain:	n/a	n/a
49	POLR2A	chr5:145582511-145583542	HEK293	kidney:	n/a	n/a
50	KAP1	chr5:145582456-145583210	HEK293	kidney:	n/a	chr5:145582770-145582779

No.	Distal block	Cell Line	Cell type
1	chr5:145559594..145562426-chr5:145581996..145584629,4	MCF-7	breast:
2	chr5:145558307..145563846-chr5:145580315..145584343,10	K562	blood:
3	chr5:145560893..145564215-chr5:145581108..145584712,3	MCF-7	breast:
4	chr5:145560592..145565120-chr5:145580444..145584486,7	K562	blood:

Variant related genes	Relation type
RBM27	TF binding region
ENSG00000133706	Chromatin interaction

Extended variants
information (count: 339 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:334)

rs_ID	r²[population]
rs10491260	1.00[AFR][1000 genomes]
rs10491261	1.00[AFR][1000 genomes]
rs10515564	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10515565	0.83[ASN][1000 genomes]
rs10515566	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515567	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1054020	0.85[ASN][1000 genomes]
rs10988	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11167931	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11167932	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11167933	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11167934	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11167936	0.98[ASN][1000 genomes]
rs11167937	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11540214	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11540215	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11540217	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11948016	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11948180	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11948314	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11949351	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11949352	1.00[AFR][1000 genomes]
rs11949703	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11950903	1.00[ASN][1000 genomes]
rs11951553	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11952228	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11952445	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11952697	1.00[AFR][1000 genomes]
rs11953090	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11953506	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11953517	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11954083	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11954297	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11954750	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11954870	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11954923	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11954977	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11955206	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11955557	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11955635	0.84[ASN][1000 genomes]
rs11956508	0.91[AFR][1000 genomes]
rs11957830	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11957888	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11957907	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11957998	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11958136	0.81[ASN][1000 genomes]
rs11958216	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11958630	0.90[AFR][1000 genomes]
rs11958633	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11959805	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11960510	1.00[AFR][1000 genomes]
rs12153109	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12153238	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12153364	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12186358	0.81[ASN][1000 genomes]
rs12186642	1.00[AFR][1000 genomes]
rs12187128	1.00[AFR][1000 genomes]
rs12187277	0.84[ASN][1000 genomes]
rs12187649	1.00[AFR][1000 genomes]
rs12187913	1.00[AFR][1000 genomes]
rs12188581	1.00[AFR][1000 genomes]
rs12188772	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12189077	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12189385	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13153675	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13153891	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13154219	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13154547	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13154735	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13155119	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13157279	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13157784	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13159380	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13160905	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13161036	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13161075	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13161488	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13161659	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13162175	1.00[ASN][1000 genomes]
rs13162233	0.80[EUR][1000 genomes]
rs13162640	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13164872	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13164882	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13168967	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13169370	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13169390	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13171596	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13171828	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13171939	0.87[ASN][1000 genomes]
rs13172010	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13173347	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13173462	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13174055	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13175587	0.98[ASN][1000 genomes]
rs13175806	1.00[AFR][1000 genomes]
rs13176784	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13176915	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13178370	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13178443	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13178516	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13178755	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13178840	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13179296	1.00[ASN][1000 genomes]
rs13179517	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13180113	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13180255	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13181074	1.00[AFR][1000 genomes]
rs13182302	1.00[AFR][1000 genomes]
rs13182567	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13182838	1.00[AFR][1000 genomes]
rs13182948	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13183541	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13183976	0.86[ASN][1000 genomes]
rs13184702	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13185586	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13185805	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13186694	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13186701	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1395276	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1395277	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1567057	0.81[ASN][1000 genomes]
rs17104255	0.83[ASN][1000 genomes]
rs17212373	1.00[AFR][1000 genomes]
rs17426845	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17427286	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17427691	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17428100	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17428465	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17428570	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17428647	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17428724	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17429180	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17443315	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17492851	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17492893	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17492950	0.83[ASN][1000 genomes]
rs17493090	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17493851	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17500456	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17500483	0.85[ASN][1000 genomes]
rs17500504	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17500927	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17501177	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17501601	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17502157	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17502233	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17502345	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17687490	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17796870	1.00[AFR][1000 genomes]
rs1876189	1.00[ASN][1000 genomes]
rs1911112	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1911113	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1985600	1.00[AFR][1000 genomes]
rs2014469	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2015248	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2024055	1.00[AFR][1000 genomes]
rs2024057	1.00[AFR][1000 genomes]
rs2053045	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2063002	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2063005	0.85[ASN][1000 genomes]
rs2279895	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292172	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2292173	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2302036	1.00[AFR][1000 genomes]
rs2304032	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2304033	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2400209	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2895647	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2895648	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2895649	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2895650	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2939533	0.98[ASN][1000 genomes]
rs2939535	0.98[ASN][1000 genomes]
rs2939536	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2939539	0.85[ASN][1000 genomes]
rs2962502	0.81[ASN][1000 genomes]
rs2962503	0.85[ASN][1000 genomes]
rs2962509	0.85[ASN][1000 genomes]
rs2962510	0.83[ASN][1000 genomes]
rs2962511	0.85[ASN][1000 genomes]
rs2962515	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2962540	0.83[AFR][1000 genomes]
rs2962541	0.83[AFR][1000 genomes]
rs2963914	0.85[ASN][1000 genomes]
rs2963915	0.85[ASN][1000 genomes]
rs2963918	0.85[ASN][1000 genomes]
rs2963919	0.83[ASN][1000 genomes]
rs2963920	0.83[ASN][1000 genomes]
rs2963921	0.85[ASN][1000 genomes]
rs2963922	0.85[ASN][1000 genomes]
rs2963923	0.85[ASN][1000 genomes]
rs2963924	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2963926	0.81[ASN][1000 genomes]
rs33914983	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34014355	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34049009	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34071526	1.00[AFR][1000 genomes]
rs34078408	1.00[AFR][1000 genomes]
rs34082425	0.84[ASN][1000 genomes]
rs34141601	0.87[ASN][1000 genomes]
rs34160255	1.00[AFR][1000 genomes]
rs34170515	1.00[AFR][1000 genomes]
rs34272709	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34342344	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34345997	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34404385	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34405762	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34444119	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34461274	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs34482773	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34516108	1.00[AFR][1000 genomes]
rs34519824	0.97[ASN][1000 genomes]
rs34529192	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34533649	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34581962	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34601905	1.00[AFR][1000 genomes]
rs34672485	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34683303	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34774165	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34775587	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34794113	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34794547	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34812645	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34818573	0.83[AFR][1000 genomes]
rs34818690	1.00[AFR][1000 genomes]
rs34819107	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34993855	0.88[AMR][1000 genomes]
rs35048100	0.85[ASN][1000 genomes]
rs35048686	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35142541	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35150639	1.00[AFR][1000 genomes]
rs35170264	0.84[ASN][1000 genomes]
rs35228139	1.00[AFR][1000 genomes]
rs35238125	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35262581	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35421100	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35421875	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35424128	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35436549	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35575652	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35652702	1.00[AFR][1000 genomes]
rs35658996	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35676277	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35749752	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35801832	1.00[AFR][1000 genomes]
rs35821418	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35825928	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35868039	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35869904	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35870798	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35935643	0.87[ASN][1000 genomes]
rs35947468	0.81[ASN][1000 genomes]
rs36019024	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36059140	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36095232	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36098188	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36102990	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36122632	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3749994	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3763373	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3797628	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3822623	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3828935	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41338847	1.00[AFR][1000 genomes]
rs4413574	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4443471	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705119	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705157	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4705179	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705398	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705438	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705445	1.00[ASN][1000 genomes]
rs4913062	1.00[AFR][1000 genomes]
rs4913063	1.00[AFR][1000 genomes]
rs4913064	1.00[AFR][1000 genomes]
rs4913067	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55665974	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55681213	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55726586	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55782203	1.00[AFR][1000 genomes]
rs55799797	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55812375	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55909935	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55937908	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56240028	1.00[ASN][1000 genomes]
rs56278005	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56338615	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56393319	1.00[AFR][1000 genomes]
rs56410805	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62372766	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62372767	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62372768	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62372769	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62372772	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62372773	0.81[ASN][1000 genomes]
rs62373771	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62373785	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62373786	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62373789	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62373798	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62373799	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62373801	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62373802	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62373809	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62373810	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62373811	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62373812	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62373813	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62373819	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62373823	0.89[ASN][1000 genomes]
rs62373824	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373831	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66538287	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67051761	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67598659	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67829086	1.00[AFR][1000 genomes]
rs67986716	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6861532	0.91[ASN][1000 genomes]
rs6867146	0.81[ASN][1000 genomes]
rs6878005	0.83[ASN][1000 genomes]
rs6881180	0.88[ASN][1000 genomes]
rs6882517	0.87[ASN][1000 genomes]
rs6884493	0.81[ASN][1000 genomes]
rs71594528	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72822286	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7443214	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7711896	1.00[ASN][1000 genomes]
rs7722258	0.81[ASN][1000 genomes]
rs7724811	0.81[ASN][1000 genomes]
rs7727353	0.90[ASN][1000 genomes]
rs7728381	0.81[ASN][1000 genomes]
rs7729098	0.81[ASN][1000 genomes]
rs9918101	1.00[ASN][1000 genomes]
rs9918130	1.00[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	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1506431	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs1506431	LARS	cis	Thyroid	GTEx
rs1506431	LARS	cis	Artery Tibial	GTEx
rs1506431	LARS	cis	Nerve Tibial	GTEx
rs1506431	LARS	cis	Esophagus Muscularis	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145581800-145582600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:145582000-145582600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:145582000-145582600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:145582000-145582600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr5:145582000-145582600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr5:145582000-145582600	Flanking Active TSS	Fetal Brain Female	brain
7	chr5:145582000-145582600	Flanking Active TSS	Osteobl	bone
8	chr5:145582000-145582800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:145582000-145582800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:145582000-145582800	Flanking Active TSS	Fetal Lung	lung
11	chr5:145582000-145582800	Flanking Active TSS	GM12878-XiMat	blood
12	chr5:145582000-145582800	Flanking Active TSS	K562	blood
13	chr5:145582000-145583800	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr5:145582000-145583800	Active TSS	Brain Substantia Nigra	brain
15	chr5:145582000-145583800	Active TSS	Duodenum Mucosa	Duodenum
16	chr5:145582000-145583800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr5:145582000-145583800	Active TSS	Fetal Brain Male	brain
18	chr5:145582000-145583800	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr5:145582000-145584000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:145582000-145584200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:145582000-145584400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:145582000-145584800	Active TSS	Hela-S3	cervix
23	chr5:145582000-145585200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:145582000-145585400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:145582000-145585800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:145582200-145582600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:145582200-145582600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr5:145582200-145582600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:145582200-145582600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:145582200-145582600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr5:145582200-145582600	Flanking Active TSS	HMEC	breast
32	chr5:145582200-145582800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr5:145582200-145582800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:145582200-145582800	Flanking Active TSS	HUVEC	blood vessel
35	chr5:145582200-145583200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:145582200-145583200	Active TSS	Brain Germinal Matrix	brain
37	chr5:145582200-145583600	Active TSS	HepG2	liver
38	chr5:145582200-145583800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr5:145582200-145583800	Active TSS	Brain Cingulate Gyrus	brain
40	chr5:145582200-145584000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:145582200-145584200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr5:145582200-145584200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:145582200-145584200	Active TSS	Fetal Intestine Small	intestine
44	chr5:145582200-145584400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:145582200-145584400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:145582200-145584400	Active TSS	Aorta	Aorta
47	chr5:145582200-145584400	Active TSS	Fetal Thymus	thymus
48	chr5:145582200-145584400	Active TSS	Ovary	ovary
49	chr5:145582200-145584400	Active TSS	Right Atrium	heart
50	chr5:145582200-145584600	Active TSS	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

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