Variant report

Variant	rs2278988
Chromosome Location	chr15:51915234-51915235
allele	G/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	MAFK	chr15:51915096-51916196	Hela-S3	cervix:	n/a	n/a
2	FOSL2	chr15:51915201-51916165	A549	lung:	n/a	chr15:51915670-51915680
3	RCOR1	chr15:51914095-51916114	Hela-S3	cervix:	n/a	n/a
4	TCF12	chr15:51914028-51916386	A549	lung:	n/a	n/a
5	EGR1	chr15:51914848-51915490	K562	blood:	n/a	chr15:51915322-51915332 chr15:51915317-51915330 chr15:51915326-51915335 chr15:51915320-51915330 chr15:51915031-51915044 chr15:51915186-51915195 chr15:51915318-51915332 chr15:51915187-51915196 chr15:51915323-51915336 chr15:51915094-51915103 chr15:51915326-51915336 chr15:51915311-51915324
6	POLR2A	chr15:51914627-51915454	A549	lung:	n/a	n/a
7	CHD2	chr15:51914184-51915249	H1-hESC	embryonic stem cell:	n/a	chr15:51915057-51915067 chr15:51914873-51914883
8	POLR2A	chr15:51914377-51915480	HCT-116	colon:	n/a	n/a
9	ETS1	chr15:51914644-51915433	A549	lung:	n/a	chr15:51914931-51914942 chr15:51915323-51915334 chr15:51915130-51915141 chr15:51915031-51915042 chr15:51915320-51915331 chr15:51914934-51914945
10	MAX	chr15:51913936-51916258	MCF-7	breast:	n/a	chr15:51915320-51915330
11	POLR2A	chr15:51914131-51915585	A549	lung:	n/a	n/a
12	SMC3	chr15:51914823-51916092	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:51914538-51915496	MCF-7	breast:	n/a	n/a
14	MAX	chr15:51914103-51916109	NB4	blood:	n/a	chr15:51915320-51915330
15	TAF1	chr15:51914508-51915235	GM12878	blood:	n/a	n/a
16	IRF1	chr15:51914808-51915343	K562	blood:	n/a	chr15:51915321-51915335
17	NFIC	chr15:51914819-51915516	ECC-1	luminal epithelium:	n/a	n/a
18	PML	chr15:51913880-51915639	GM12878	blood:	n/a	chr15:51915581-51915589
19	POLR2A	chr15:51914075-51915541	GM19099	blood:	n/a	n/a
20	HEY1	chr15:51914770-51915276	K562	blood:	n/a	chr15:51915100-51915115 chr15:51914930-51914945
21	E2F4	chr15:51914566-51915528	K562	blood:	n/a	chr15:51914599-51914609 chr15:51914932-51914942 chr15:51915322-51915331 chr15:51915186-51915195
22	USF1	chr15:51915140-51915420	SK-N-SH_RA	brain:	n/a	chr15:51915299-51915315
23	NRF1	chr15:51914441-51915694	SK-N-SH	brain:	n/a	chr15:51915185-51915196 chr15:51915187-51915196 chr15:51915182-51915196 chr15:51915185-51915196 chr15:51915322-51915331 chr15:51914992-51915006 chr15:51915185-51915199
24	POLR2A	chr15:51913972-51915565	H1-neurons	neurons:	n/a	n/a
25	RELA	chr15:51914039-51916101	GM18951	blood:	n/a	chr15:51915475-51915484 chr15:51915475-51915484
26	RELA	chr15:51914114-51915533	GM15510	blood:	n/a	chr15:51915475-51915484 chr15:51915475-51915484
27	CEBPB	chr15:51914722-51916072	Hela-S3	cervix:	n/a	chr15:51915726-51915738
28	POLR2A	chr15:51914011-51916065	NB4	blood:	n/a	n/a
29	POLR2A	chr15:51914051-51915542	HL-60	blood:	n/a	n/a
30	TCF7L2	chr15:51914263-51915407	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr15:51914808-51915340	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr15:51914073-51915492	K562	blood:	n/a	n/a
33	HDAC2	chr15:51914883-51915447	HepG2	liver:	n/a	chr15:51915187-51915196
34	ZNF263	chr15:51914117-51915311	HEK293-T-REx	kidney:	n/a	n/a
35	EBF1	chr15:51914139-51915512	GM12878	blood:	n/a	chr15:51914497-51914508 chr15:51914496-51914509
36	MAX	chr15:51914001-51915651	A549	lung:	n/a	chr15:51915320-51915330
37	MAX	chr15:51913959-51915806	A549	lung:	n/a	chr15:51915320-51915330
38	POLR2A	chr15:51914118-51915515	MCF-7	breast:	n/a	n/a
39	YY1	chr15:51914760-51915258	A549	lung:	n/a	chr15:51914932-51914946 chr15:51914931-51914942 chr15:51914934-51914943 chr15:51914931-51914940
40	TAF1	chr15:51914661-51915402	ECC-1	luminal epithelium:	n/a	n/a
41	ZNF143	chr15:51914856-51916366	K562	blood:	n/a	chr15:51914936-51914946 chr15:51915840-51915859
42	MAX	chr15:51914052-51915676	ECC-1	luminal epithelium:	n/a	chr15:51915320-51915330
43	MAX	chr15:51915189-51915372	K562	blood:	n/a	chr15:51915320-51915330
44	POLR2A	chr15:51914200-51915459	PANC-1	pancreas:	n/a	n/a
45	TAF1	chr15:51915200-51915444	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr15:51914629-51915657	U87	brain:	n/a	n/a
47	POLR2A	chr15:51914099-51915496	A549	lung:	n/a	n/a
48	USF1	chr15:51914781-51915462	ECC-1	luminal epithelium:	n/a	chr15:51914933-51914949 chr15:51914930-51914946 chr15:51915299-51915315
49	YY1	chr15:51914821-51915268	K562	blood:	n/a	chr15:51914932-51914946 chr15:51914931-51914942 chr15:51914934-51914943 chr15:51914931-51914940
50	POLR2A	chr15:51914583-51915533	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51895628..51897591-chr15:51913669..51916030,2	MCF-7	breast:
2	chr15:51914606..51918105-chr15:52309438..52311518,3	K562	blood:
3	chr15:51913469..51917109-chr15:52042794..52045514,3	MCF-7	breast:
4	chr14:51026899..51027640-chr15:51914645..51915479,2	HCT-116	colon:
5	chr10:106028507..106029210-chr15:51914666..51915329,2	MCF-7	breast:
6	chr15:51895386..51897033-chr15:51913625..51916763,3	K562	blood:
7	chr15:51898533..51902972-chr15:51911457..51915866,6	MCF-7	breast:
8	chr15:51893271..51898734-chr15:51911463..51916763,7	K562	blood:
9	chr15:51914529..51916927-chr15:52121179..52124043,2	MCF-7	breast:
10	chr15:51913874..51916144-chr15:52165568..52168116,2	MCF-7	breast:
11	chr15:51911576..51916583-chr15:52027382..52031699,5	MCF-7	breast:
12	chr15:51913842..51915651-chr15:52310480..52312908,3	MCF-7	breast:
13	chr15:51914559..51915482-chr9:91933369..91933927,2	Hela-S3	cervix:

Variant related genes	Relation type
DMXL2	TF binding region
ENSG00000187742	Chromatin interaction
ENSG00000138594	Chromatin interaction
ENSG00000198513	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000263437	Chromatin interaction
ENSG00000128872	Chromatin interaction
ENSG00000065621	Chromatin interaction
ENSG00000259377	Chromatin interaction
ENSG00000104093	Chromatin interaction
ENSG00000140280	Chromatin interaction
ENSG00000069956	Chromatin interaction

Extended variants
information (count: 224 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:219)

rs_ID	r²[population]
rs10220909	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1031664	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10438320	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10438321	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10467923	0.90[EUR][1000 genomes]
rs10467924	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10519312	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10519313	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1077361	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10775144	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1080394	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10851500	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10851502	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11070851	0.82[EUR][1000 genomes]
rs11070852	0.92[EUR][1000 genomes]
rs11070853	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11070854	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070855	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11070856	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11070857	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070859	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11070860	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11070862	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11070863	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11630336	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11630743	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11630842	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11631408	0.82[EUR][1000 genomes]
rs11632853	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11633395	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11633713	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11634039	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11634110	0.83[EUR][1000 genomes]
rs11634180	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11634999	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11635216	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11635592	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11636170	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11636428	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11638240	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12050586	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12050598	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12050600	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12101730	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12101920	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12102203	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12372948	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12438892	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12440990	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12441167	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12441759	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12442725	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12442803	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12442947	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12443007	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12443362	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12592179	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12592653	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12592889	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12593979	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12913493	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17524813	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17603116	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17609666	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17609693	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17609791	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17609812	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17609917	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17609924	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1902592	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1902593	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1902594	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2124592	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2124875	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2124876	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2124877	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2124878	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2124879	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278989	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2278990	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2305708	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414105	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2414106	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2414107	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2414109	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2414111	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2414113	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2414114	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28376817	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28393906	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28410165	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28415556	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28428679	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28431083	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28576876	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28648597	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28680710	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28695624	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28795073	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28854610	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28866855	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2899475	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2899476	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2899477	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3736485	0.81[EUR][1000 genomes]
rs4143721	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4143722	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4143723	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4143724	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4144941	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4359386	0.88[ASN][1000 genomes]
rs4438255	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4462536	0.88[ASN][1000 genomes]
rs4462537	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4545756	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4774589	0.82[EUR][1000 genomes]
rs4774590	0.82[ASN][1000 genomes]
rs4774591	0.85[EUR][1000 genomes]
rs4774592	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4774593	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4774595	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4774596	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4774597	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4774598	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4775943	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4775944	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4775946	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4775951	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4775952	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4775953	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775955	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775956	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775958	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4775959	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4775960	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4775961	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775963	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4775965	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4775966	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55981933	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55982453	0.85[EUR][1000 genomes]
rs56189052	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60060794	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62014659	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62016017	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6493498	0.83[EUR][1000 genomes]
rs6493499	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6493500	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6493501	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493503	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493505	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493510	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493513	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67524810	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7161973	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7162361	0.91[EUR][1000 genomes]
rs7162412	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7162563	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7165887	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7167760	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7168546	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7168749	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7169753	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7169786	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7170217	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7170330	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7170444	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7171439	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7173880	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7174435	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7174495	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7174655	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7176044	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7177471	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7177720	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7181470	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7182977	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7183435	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7183479	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7495962	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs750162	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs750163	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8023455	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8024506	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8028017	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8030121	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8030534	0.90[EUR][1000 genomes]
rs8031875	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8031903	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8034197	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8035135	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8036609	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8036821	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8036904	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8037167	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8037340	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8037840	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8038203	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8038341	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8039073	0.84[EUR][1000 genomes]
rs8039835	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8040080	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8040538	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8040648	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8041197	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8041514	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8042221	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8042289	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8042840	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs882385	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs882386	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9708186	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9744054	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9806598	0.83[ASN][1000 genomes]
rs9920124	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9920145	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9944259	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9944263	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9944264	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][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	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv569408	chr15:51867172-51946100	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2278988	DMXL2	Cis_1M	lymphoblastoid	RTeQTL
rs2278988	DMXL2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51911400-51915800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:51911600-51916000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr15:51912800-51915400	Active TSS	Primary T cells from cord blood	blood
4	chr15:51912800-51915400	Active TSS	Fetal Brain Female	brain
5	chr15:51912800-51915600	Active TSS	Brain Cingulate Gyrus	brain
6	chr15:51912800-51915800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:51912800-51915800	Active TSS	NHLF	lung
8	chr15:51912800-51916600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:51913000-51915400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:51913000-51915600	Active TSS	Duodenum Mucosa	Duodenum
11	chr15:51913000-51915800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:51913000-51915800	Active TSS	Fetal Kidney	kidney
13	chr15:51913000-51916200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr15:51913200-51915400	Active TSS	K562	blood
15	chr15:51913200-51915600	Active TSS	Fetal Muscle Leg	muscle
16	chr15:51913200-51915600	Active TSS	Thymus	Thymus
17	chr15:51913200-51915800	Active TSS	NHDF-Ad	bronchial
18	chr15:51913400-51915400	Active TSS	Primary monocytes fromperipheralblood	blood
19	chr15:51913400-51915600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:51913400-51915800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:51913400-51915800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:51913400-51915800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr15:51913400-51916000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:51913400-51916000	Active TSS	Fetal Brain Male	brain
25	chr15:51913400-51916000	Active TSS	Fetal Intestine Large	intestine
26	chr15:51913600-51915400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:51913600-51915400	Active TSS	GM12878-XiMat	blood
28	chr15:51913600-51915600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:51913600-51915600	Active TSS	Brain Angular Gyrus	brain
30	chr15:51913600-51915600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr15:51913600-51915600	Active TSS	Placenta	Placenta
32	chr15:51913600-51915600	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr15:51913600-51915800	Active TSS	Brain Hippocampus Middle	brain
34	chr15:51913600-51915800	Active TSS	Fetal Stomach	stomach
35	chr15:51913600-51916000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:51913600-51916000	Active TSS	Brain Substantia Nigra	brain
37	chr15:51913600-51916000	Active TSS	Stomach Smooth Muscle	stomach
38	chr15:51913600-51916200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr15:51913800-51915400	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr15:51913800-51915400	Active TSS	Osteobl	bone
41	chr15:51913800-51915600	Active TSS	Colon Smooth Muscle	Colon
42	chr15:51913800-51915600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr15:51913800-51915600	Active TSS	A549	lung
44	chr15:51913800-51915800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr15:51913800-51915800	Active TSS	Fetal Lung	lung
46	chr15:51913800-51915800	Active TSS	Fetal Muscle Trunk	muscle
47	chr15:51913800-51915800	Active TSS	HSMMtube	muscle
48	chr15:51913800-51916000	Active TSS	Brain Anterior Caudate	brain
49	chr15:51914000-51915400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:51914000-51915400	Active TSS	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

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