Variant report

Variant	rs526045
Chromosome Location	chr15:50645530-50645531
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	MXI1	chr15:50645398-50648299	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:50645478-50645696	H1-hESC	embryonic stem cell:	n/a	chr15:50645517-50645528 chr15:50645514-50645531
3	POLR2A	chr15:50643941-50650733	GM12891	blood:	n/a	n/a
4	POLR2A	chr15:50645416-50645819	GM12891	blood:	n/a	n/a
5	SIN3AK20	chr15:50645321-50648400	MCF-7	breast:	n/a	n/a
6	POLR2A	chr15:50645476-50650223	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:50645482-50648214	HUVEC	blood vessel:	n/a	n/a
8	RUNX3	chr15:50645366-50648103	GM12878	blood:	n/a	n/a
9	IRF1	chr15:50645233-50646527	K562	blood:	n/a	chr15:50646284-50646294 chr15:50646282-50646295 chr15:50646281-50646295 chr15:50646278-50646295 chr15:50646283-50646295 chr15:50646283-50646296 chr15:50646283-50646295 chr15:50646280-50646294 chr15:50646283-50646297 chr15:50646282-50646296 chr15:50646283-50646294 chr15:50645791-50645805 chr15:50646284-50646298 chr15:50646282-50646293
10	E2F4	chr15:50645406-50646262	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr15:50645481-50645931	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr15:50645051-50646560	U87	brain:	n/a	n/a
13	POLR2A	chr15:50643964-50649543	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:50645530-50650223	K562	blood:	n/a	n/a
15	FOS	chr15:50645324-50645805	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr15:50645501-50648207	NB4	blood:	n/a	chr15:50646903-50646913 chr15:50647687-50647697
17	POLR2A	chr15:50645340-50648555	HUVEC	blood vessel:	n/a	n/a
18	FOS	chr15:50645383-50646471	MCF10A-Er-Src	breast:	n/a	n/a
19	TBP	chr15:50645395-50646540	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr15:50645385-50648296	GM12878	blood:	n/a	chr15:50647640-50647650 chr15:50646931-50646941
21	POLR2A	chr15:50645256-50648257	U87	brain:	n/a	n/a
22	POLR2A	chr15:50645051-50645985	U87	brain:	n/a	n/a
23	TBL1XR1	chr15:50645456-50646468	GM12878	blood:	n/a	n/a
24	RUNX3	chr15:50645417-50645828	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:50645486-50648569	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr15:50645301-50648579	MCF-7	breast:	n/a	n/a
27	CEBPB	chr15:50645342-50645797	IMR90	lung:	n/a	chr15:50645517-50645528 chr15:50645514-50645531
28	POLR2A	chr15:50645464-50650252	K562	blood:	n/a	n/a
29	TBP	chr15:50645448-50646509	GM12878	blood:	n/a	n/a
30	EP300	chr15:50645515-50646482	GM12878	blood:	n/a	chr15:50645566-50645573
31	ZNF384	chr15:50645373-50646213	GM12878	blood:	n/a	n/a
32	MYC	chr15:50645294-50648723	A549	lung:	n/a	chr15:50646903-50646913 chr15:50647687-50647697 chr15:50645298-50645305
33	POLR2A	chr15:50645281-50648168	U87	brain:	n/a	n/a
34	POLR2A	chr15:50642011-50646578	K562	blood:	n/a	n/a
35	CEBPB	chr15:50645371-50645686	A549	lung:	n/a	chr15:50645517-50645528 chr15:50645514-50645531
36	TBL1XR1	chr15:50645096-50646516	K562	blood:	n/a	n/a
37	POLR2A	chr15:50645493-50648538	GM19099	blood:	n/a	n/a
38	CHD1	chr15:50645052-50649822	IMR90	lung:	n/a	chr15:50647640-50647650 chr15:50646931-50646941
39	MYC	chr15:50645390-50645873	MCF10A-Er-Src	breast:	n/a	n/a
40	CEBPB	chr15:50645358-50645757	Hela-S3	cervix:	n/a	chr15:50645517-50645528 chr15:50645514-50645531
41	POLR2A	chr15:50645404-50648444	PBDE	blood:	n/a	n/a
42	GATA3	chr15:50645403-50648186	MCF-7	breast:	n/a	chr15:50646826-50646835 chr15:50645934-50645944 chr15:50647396-50647405
43	GATA2	chr15:50645232-50646386	HUVEC	blood vessel:	n/a	chr15:50645253-50645269 chr15:50645934-50645944 chr15:50645251-50645272
44	EP300	chr15:50645470-50646440	GM12878	blood:	n/a	chr15:50645566-50645573
45	MXI1	chr15:50644670-50649694	SK-N-SH	brain:	n/a	n/a
46	GATA1	chr15:50645311-50647870	PBDE	blood:	n/a	chr15:50646826-50646835 chr15:50645934-50645944 chr15:50647396-50647405
47	POLR2A	chr15:50643912-50651678	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr15:50645482-50648395	HUVEC	blood vessel:	n/a	n/a
49	FOS	chr15:50645362-50645815	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr15:50645483-50645718	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50626190..50628590-chr15:50644878..50647034,2	K562	blood:
2	chr15:50643783..50647096-chr15:50681349..50683673,3	K562	blood:
3	chr1:149856230..149858329-chr15:50645026..50647527,2	MCF-7	breast:
4	chr15:50643045..50650563-chr15:50756489..50761004,9	MCF-7	breast:
5	chr15:50644767..50646940-chr15:50764090..50766504,2	MCF-7	breast:
6	chr15:49446244..49450190-chr15:50645448..50647621,4	K562	blood:
7	chr15:50643809..50645888-chr6:26156280..26158384,2	MCF-7	breast:
8	chr15:50601193..50602904-chr15:50644930..50647260,2	MCF-7	breast:
9	chr11:62656488..62658852-chr15:50644202..50647028,2	K562	blood:
10	chr15:50644389..50649393-chr15:50787180..50791359,7	MCF-7	breast:
11	chr15:50644593..50647982-chr15:50708471..50714039,7	MCF-7	breast:
12	chr15:50645500..50647866-chr17:56706889..56709472,3	MCF-7	breast:
13	chr1:234614349..234616741-chr15:50645455..50648119,2	MCF-7	breast:
14	chr15:50644809..50652796-chr15:50713240..50720627,20	K562	blood:
15	chr15:50356816..50359493-chr15:50643389..50647117,3	MCF-7	breast:
16	chr15:50644661..50647207-chr15:51058214..51061180,2	MCF-7	breast:
17	chr15:50644978..50654282-chr15:50714279..50723145,48	MCF-7	breast:
18	chr15:50558329..50559981-chr15:50643357..50646236,2	K562	blood:
19	chr15:50643521..50646507-chr15:50725022..50727342,2	K562	blood:
20	chr15:50645303..50648012-chr17:48942283..48944401,2	MCF-7	breast:
21	chr15:50645261..50648746-chr15:51197475..51202828,11	MCF-7	breast:
22	chr15:50645260..50648664-chr15:50977679..50981268,7	MCF-7	breast:
23	chr12:56473848..56475749-chr15:50645471..50647773,2	MCF-7	breast:
24	chr15:50644601..50650486-chr15:50714318..50720349,10	K562	blood:
25	chr15:50514723..50516231-chr15:50645292..50647059,2	MCF-7	breast:
26	chr15:50644770..50653815-chr15:50713287..50720249,51	MCF-7	breast:
27	chr15:50645516..50647212-chr15:50771068..50773331,2	MCF-7	breast:
28	chr15:50481284..50485703-chr15:50645023..50648855,4	MCF-7	breast:
29	chr15:50644123..50646401-chr15:51208532..51210565,2	MCF-7	breast:
30	chr15:50645366..50646008-chr2:6296449..6297254,2	MCF-7	breast:
31	chr15:50645317..50647138-chr15:51189907..51192818,2	MCF-7	breast:
32	chr15:50543402..50546278-chr15:50645480..50648581,3	MCF-7	breast:
33	chr15:50617729..50624931-chr15:50645125..50648613,9	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDC-2	chr15:50641135-50647076	NONHSAT042404

Variant related genes	Relation type
GABPB1-AS1	TF binding region
ENSG00000081014	Chromatin interaction
ENSG00000243027	Chromatin interaction
ENSG00000140284	Chromatin interaction
ENSG00000242737	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000259465	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000140287	Chromatin interaction
ENSG00000259618	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000259298	Chromatin interaction
ENSG00000092439	Chromatin interaction
ENSG00000259467	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000059588	Chromatin interaction
ENSG00000156958	Chromatin interaction
ENSG00000166200	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10152534	0.84[EUR][1000 genomes]
rs10220734	0.88[EUR][1000 genomes]
rs11070766	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11070768	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11629603	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630045	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11630063	0.86[ASN][1000 genomes]
rs11631197	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11631985	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632019	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11632703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11633903	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs11636564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636908	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11637901	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637975	0.91[ASN][1000 genomes]
rs11638319	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs11638432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11638564	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639406	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11853236	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11855823	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12594956	0.92[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs12902318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906304	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12908591	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12909337	0.95[ASN][1000 genomes]
rs12910368	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12910586	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12912679	0.95[ASN][1000 genomes]
rs12912969	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913144	0.83[EUR][1000 genomes]
rs12923	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16963612	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17508371	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17509944	1.00[JPT][hapmap]
rs1797311	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1972699	0.84[EUR][1000 genomes]
rs1972700	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2033115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187576	0.84[GIH][hapmap]
rs28372114	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28408662	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28451583	0.91[ASN][1000 genomes]
rs28453939	0.87[ASN][1000 genomes]
rs28531946	0.87[ASN][1000 genomes]
rs28534445	0.95[ASN][1000 genomes]
rs28609286	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28669213	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28688566	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690939	0.95[ASN][1000 genomes]
rs28715646	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716586	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28719982	0.95[ASN][1000 genomes]
rs28886692	0.90[EUR][1000 genomes]
rs34143694	0.95[ASN][1000 genomes]
rs34197276	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34312018	0.91[ASN][1000 genomes]
rs34405772	0.91[ASN][1000 genomes]
rs34590486	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35000991	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35013067	0.82[ASN][1000 genomes]
rs35024305	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35033384	0.91[ASN][1000 genomes]
rs35168369	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35354250	0.95[ASN][1000 genomes]
rs35446819	0.87[ASN][1000 genomes]
rs35453213	0.95[ASN][1000 genomes]
rs35777196	0.90[EUR][1000 genomes]
rs3784297	0.92[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs4774559	0.95[ASN][1000 genomes]
rs4775872	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4775873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4775874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775875	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775877	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504781	0.81[AFR][1000 genomes]
rs526952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs535648	0.84[CEU][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs62022571	0.80[ASN][1000 genomes]
rs62022573	0.85[EUR][1000 genomes]
rs6493425	0.89[EUR][1000 genomes]
rs6493427	0.82[EUR][1000 genomes]
rs6493429	1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493430	0.84[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs7163457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164375	0.86[ASN][1000 genomes]
rs7164377	0.86[ASN][1000 genomes]
rs7164798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7168233	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7173127	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7175150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7176792	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7183422	0.91[ASN][1000 genomes]
rs73399285	0.91[ASN][1000 genomes]
rs8024514	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8025367	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026571	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026785	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs8027367	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030036	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs8030952	0.91[ASN][1000 genomes]
rs8031431	0.87[EUR][1000 genomes]
rs8034597	0.91[ASN][1000 genomes]
rs8034615	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036354	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8039829	0.89[EUR][1000 genomes]
rs8042053	0.91[ASN][1000 genomes]
rs8042451	0.84[EUR][1000 genomes]
rs8042845	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs8043257	0.84[EUR][1000 genomes]
rs8043475	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs526045	GABPB1-AS1	cis	Muscle Skeletal	GTEx
rs526045	CTD-3110H11.1	cis	Skin Sun Exposed Lower leg	GTEx
rs526045	GABPB1-AS1	cis	Esophagus Mucosa	GTEx
rs526045	CTD-3110H11.1	cis	Thyroid	GTEx
rs526045	CTD-3110H11.1	cis	Esophagus Mucosa	GTEx
rs526045	GABPB1-AS1	cis	lung	GTEx
rs526045	GABPB1-AS1	cis	Esophagus Muscularis	GTEx
rs526045	GABPB1-AS1	cis	Artery Tibial	GTEx
rs526045	CTD-3110H11.1	cis	Adipose Subcutaneous	GTEx
rs526045	GABPB1-AS1	cis	Artery Aorta	GTEx
rs526045	GABPB1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs526045	CTD-3110H11.1	cis	lung	GTEx
rs526045	GABPB1-AS1	cis	Stomach	GTEx
rs526045	GABPB1-AS1	cis	Nerve Tibial	GTEx
rs526045	GABPB1-AS1	cis	Thyroid	GTEx
rs526045	CTD-3110H11.1	cis	Muscle Skeletal	GTEx
rs526045	GABPB2	cis	lesional skin	skin_eQTL
rs526045	GABPB1-AS1	cis	Adipose Subcutaneous	GTEx
rs526045	CTD-3110H11.1	cis	Nerve Tibial	GTEx
rs526045	CTD-3110H11.1	cis	Artery Tibial	GTEx
rs526045	GABPB2	cis	normal skin	skin_eQTL
rs526045	GABPB1-AS1	cis	Whole Blood	GTEx
rs526045	C15orf43	cis	parietal	SCAN
rs526045	CTD-3110H11.1	cis	Esophagus Muscularis	GTEx
rs526045	GABPB2	cis	uninvolved skin	skin_eQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50618400-50646000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:50621200-50646000	Weak transcription	Gastric	stomach
3	chr15:50623800-50645600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:50633800-50645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:50641000-50645600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:50643200-50646000	Weak transcription	Esophagus	oesophagus
7	chr15:50643600-50645800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:50643600-50646000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:50644000-50645800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr15:50644000-50646800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:50644000-50648600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:50644000-50648600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr15:50644200-50645600	Flanking Active TSS	HUVEC	blood vessel
14	chr15:50644200-50646000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:50644200-50648200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:50644200-50648400	Active TSS	HSMMtube	muscle
17	chr15:50644200-50648600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr15:50644200-50648800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr15:50644400-50646400	Active TSS	Brain Germinal Matrix	brain
20	chr15:50644400-50648200	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr15:50644400-50648400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr15:50644400-50648800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:50644400-50649000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr15:50644400-50649200	Active TSS	Fetal Brain Female	brain
25	chr15:50644400-50649400	Active TSS	NHLF	lung
26	chr15:50644600-50645600	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr15:50644600-50645600	Flanking Active TSS	Dnd41	blood
28	chr15:50644600-50645800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:50644600-50647800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:50644600-50648800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:50644600-50649200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr15:50644600-50649200	Active TSS	GM12878-XiMat	blood
33	chr15:50644600-50649800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:50644800-50645600	Flanking Active TSS	Fetal Kidney	kidney
35	chr15:50644800-50645600	Flanking Active TSS	Hela-S3	cervix
36	chr15:50644800-50645800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:50644800-50645800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:50644800-50646000	Weak transcription	Lung	lung
39	chr15:50644800-50646600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr15:50644800-50647800	Active TSS	Colonic Mucosa	Colon
41	chr15:50644800-50648000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:50644800-50648200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:50644800-50648400	Active TSS	Ovary	ovary
44	chr15:50644800-50648600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr15:50644800-50648600	Active TSS	HMEC	breast
46	chr15:50644800-50648800	Active TSS	Thymus	Thymus
47	chr15:50644800-50649200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:50644800-50649200	Active TSS	Right Ventricle	heart
49	chr15:50645000-50645600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr15:50645000-50645600	Enhancers	Primary neutrophils fromperipheralblood	blood

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