Variant report

Variant	rs6487223
Chromosome Location	chr12:21590397-21590398
allele	C/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	ETS1	chr12:21590347-21591243	A549	lung:	n/a	chr12:21590569-21590578 chr12:21590569-21590578 chr12:21590569-21590578 chr12:21590566-21590579 chr12:21590570-21590580 chr12:21590569-21590578 chr12:21590569-21590578 chr12:21590565-21590581 chr12:21590566-21590581 chr12:21590569-21590578 chr12:21590569-21590578
2	RAD21	chr12:21590315-21591051	A549	lung:	n/a	chr12:21590597-21590609
3	STAT5A	chr12:21590306-21591031	GM12878	blood:	n/a	chr12:21590818-21590830
4	ELF1	chr12:21590166-21591475	HCT-116	colon:	n/a	chr12:21590837-21590848 chr12:21590837-21590848
5	MYC	chr12:21590315-21591413	K562	blood:	n/a	n/a
6	POLR2A	chr12:21590107-21592828	GM12878	blood:	n/a	n/a
7	MAX	chr12:21590279-21591077	SK-N-SH	brain:	n/a	n/a
8	MAZ	chr12:21590266-21591060	Hela-S3	cervix:	n/a	n/a
9	MAX	chr12:21590176-21591363	A549	lung:	n/a	n/a
10	ELK4	chr12:21590318-21591005	Hela-S3	cervix:	n/a	chr12:21590568-21590579 chr12:21590569-21590578 chr12:21590569-21590577
11	MYBL2	chr12:21590356-21590837	HepG2	liver:	n/a	n/a
12	USF2	chr12:21590363-21591086	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:21590323-21591383	GM18951	blood:	n/a	n/a
14	E2F6	chr12:21590391-21591198	K562	blood:	n/a	n/a
15	CHD2	chr12:21590385-21590931	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:21590335-21591496	GM18526	blood:	n/a	n/a
17	SP1	chr12:21590250-21591439	A549	lung:	n/a	chr12:21590816-21590830 chr12:21590676-21590687
18	POLR2A	chr12:21590320-21591381	GM12878	blood:	n/a	n/a
19	STAT1	chr12:21590361-21591030	GM12878	blood:	n/a	chr12:21590818-21590830
20	POLR2A	chr12:21590320-21591496	K562	blood:	n/a	n/a
21	PML	chr12:21590247-21590950	K562	blood:	n/a	chr12:21590929-21590937
22	ELF1	chr12:21590397-21591008	K562	blood:	n/a	chr12:21590837-21590848 chr12:21590837-21590848
23	TBP	chr12:21590365-21591061	HepG2	liver:	n/a	n/a
24	JUND	chr12:21590349-21590901	A549	lung:	n/a	n/a
25	FOXM1	chr12:21590375-21591229	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:21590173-21591324	U87	brain:	n/a	n/a
27	POLR2A	chr12:21590147-21591406	Raji	blood:	n/a	n/a
28	POLR2A	chr12:21590338-21591038	GM12892	blood:	n/a	n/a
29	TBP	chr12:21590197-21591519	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr12:21590369-21591025	K562	blood:	n/a	n/a
31	POLR2A	chr12:21590310-21591494	GM18505	blood:	n/a	n/a
32	POLR2A	chr12:21590376-21591017	GM12878	blood:	n/a	n/a
33	ELF1	chr12:21590369-21591430	GM12878	blood:	n/a	chr12:21590837-21590848 chr12:21590837-21590848
34	REST	chr12:21590157-21591174	A549	lung:	n/a	n/a
35	GATA1	chr12:21590101-21591012	PBDE	blood:	n/a	n/a
36	TAF1	chr12:21590386-21590850	GM12892	blood:	n/a	n/a
37	MYC	chr12:21590294-21591242	MCF10A-Er-Src	breast:	n/a	n/a
38	GABPA	chr12:21590390-21590875	Hela-S3	cervix:	n/a	n/a
39	EP300	chr12:21590376-21590724	HepG2	liver:	n/a	chr12:21590570-21590577
40	REST	chr12:21590255-21591273	HL-60	blood:	n/a	n/a
41	ATF2	chr12:21590395-21591057	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZBTB33	chr12:21590270-21591012	HCT-116	colon:	n/a	n/a
43	MAX	chr12:21590313-21590958	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIN3A	chr12:21590347-21591223	H1-hESC	embryonic stem cell:	n/a	n/a
45	YY1	chr12:21590344-21590961	GM12878	blood:	n/a	chr12:21590660-21590672
46	GABPA	chr12:21590235-21591100	MCF-7	breast:	n/a	n/a
47	GABPA	chr12:21590389-21590936	K562	blood:	n/a	n/a
48	MYC	chr12:21590133-21591209	MCF10A-Er-Src	breast:	n/a	n/a
49	ELF1	chr12:21590371-21591041	K562	blood:	n/a	chr12:21590837-21590848 chr12:21590837-21590848
50	POLR2A	chr12:21590259-21591055	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:21569338..21572113-chr12:21589171..21592854,4	K562	blood:
2	chr12:21569338..21572113-chr12:21589171..21592483,4	K562	blood:
3	chr12:21590034..21590802-chr19:47760711..47761229,2	Hela-S3	cervix:
4	chr11:106698243..106699219-chr12:21590223..21591148,2	HCT-116	colon:
5	chr12:21589456..21592020-chr12:21808889..21812230,4	K562	blood:
6	chr11:85780118..85780978-chr12:21590354..21590877,2	Hela-S3	cervix:
7	chr12:21590241..21590802-chr3:49058409..49058917,2	NB4	blood:

Variant related genes	Relation type
PYROXD1	TF binding region
ENSG00000213252	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000105321	Chromatin interaction
ENSG00000111716	Chromatin interaction
ENSG00000084453	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10160932	0.87[AMR][1000 genomes]
rs10161011	0.88[ASN][1000 genomes]
rs10161130	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes]
rs10161132	0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10437776	0.91[CHB][hapmap];0.81[CHD][hapmap];0.88[ASN][1000 genomes]
rs10770808	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs10770810	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10770812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770814	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10770815	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10841808	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs10841809	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs10841810	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs10841815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10841821	0.89[ASN][1000 genomes]
rs10841822	0.86[ASN][1000 genomes]
rs10841832	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.82[LWK][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11046050	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11046055	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046056	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11046065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11046069	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11046071	0.89[ASN][1000 genomes]
rs11046073	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11608659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608682	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11610942	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs12228018	0.93[ASN][1000 genomes]
rs12318289	0.82[CHB][hapmap]
rs12372774	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs12423128	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12423151	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12831608	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13035	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1476904	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476905	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860949	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1963330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1963817	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[ASN][1000 genomes]
rs2058463	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2058464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110165	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2159943	0.86[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2159947	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2159948	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192176	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192179	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2192182	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2192183	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2215734	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2284392	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs2302499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2302500	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2417979	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2417980	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2417981	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2417982	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2417983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2417984	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs28690452	0.91[ASN][1000 genomes]
rs3213210	0.89[ASN][1000 genomes]
rs3213211	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35159698	0.81[AMR][1000 genomes]
rs3752648	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3759229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782660	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825287	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825289	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4388943	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4388944	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4423237	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4551820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4762828	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4762829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4762830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4762831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4762832	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4762833	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926294	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61926296	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6487222	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6487226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6487227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6487228	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487230	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6487231	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6487233	0.81[CHB][hapmap]
rs7131777	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7133827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7134243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7135390	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs7136175	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7136257	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7136265	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137034	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7138359	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs714356	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs714357	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7294351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295417	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7295570	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7296273	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7297084	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7298300	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308263	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7309539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7310953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314131	0.80[MKK][hapmap]
rs7314170	0.82[CHB][hapmap]
rs7319	0.85[GIH][hapmap]
rs738027	0.80[MKK][hapmap]
rs738028	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs738029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957200	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7964568	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7966443	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7971031	0.89[ASN][1000 genomes]
rs7971245	0.80[MKK][hapmap]
rs7974260	0.83[CEU][hapmap];0.83[JPT][hapmap]
rs7980058	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980474	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980957	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs917855	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs997820	0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526789	chr12:21555691-21590788	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv469163	chr12:21579080-21592357	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	nsv557742	chr12:21579080-21592357	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs6487223	RECQL	cis	cerebellum	SCAN
rs6487223	PYROXD1	cis	Heart Left Ventricle	GTEx
rs6487223	PYROXD1	cis	cerebellum	SCAN
rs6487223	PYROXD1	cis	parietal	SCAN
rs6487223	LOC642732	Cis_1M	lymphoblastoid	RTeQTL
rs6487223	PYROXD1	Cis_1M	lymphoblastoid	RTeQTL
rs6487223	PYROXD1	cis	lymphoblastoid	seeQTL
rs6487223	RECQL	Cis_1M	lymphoblastoid	RTeQTL
rs6487223	LOC642732///PYROXD1	Cis_1M	lymphoblastoid	RTeQTL
rs6487223	PYROXD1	cis	Artery Tibial	GTEx
rs6487223	PYROXD1	cis	Esophagus Muscularis	GTEx
rs6487223	PYROXD1	cis	Artery Aorta	GTEx
rs6487223	FLJ22028	cis	normal skin	skin_eQTL
rs6487223	PYROXD1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21589800-21590400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:21589800-21591400	Active TSS	Fetal Kidney	kidney
3	chr12:21589800-21591600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:21589800-21591600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:21589800-21591600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr12:21589800-21591600	Active TSS	HSMMtube	muscle
7	chr12:21589800-21592000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:21590000-21590400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr12:21590000-21590400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr12:21590000-21590400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:21590000-21590400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:21590000-21590400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr12:21590000-21590400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:21590000-21590400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr12:21590000-21590400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:21590000-21590400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:21590000-21590400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr12:21590000-21590400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr12:21590000-21590400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:21590000-21590400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr12:21590000-21590400	Enhancers	Small Intestine	intestine
22	chr12:21590000-21590400	Flanking Active TSS	Dnd41	blood
23	chr12:21590000-21590400	Flanking Active TSS	HUVEC	blood vessel
24	chr12:21590000-21590600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr12:21590000-21590600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr12:21590000-21590600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:21590000-21590600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr12:21590000-21590800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:21590000-21591200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr12:21590000-21591200	Active TSS	Adipose Nuclei	Adipose
31	chr12:21590000-21591200	Active TSS	Liver	Liver
32	chr12:21590000-21591200	Active TSS	Fetal Brain Male	brain
33	chr12:21590000-21591200	Active TSS	Left Ventricle	heart
34	chr12:21590000-21591400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:21590000-21591400	Active TSS	Brain Anterior Caudate	brain
36	chr12:21590000-21591400	Active TSS	Brain Hippocampus Middle	brain
37	chr12:21590000-21591400	Active TSS	Colon Smooth Muscle	Colon
38	chr12:21590000-21591400	Active TSS	Fetal Heart	heart
39	chr12:21590000-21591400	Active TSS	Fetal Intestine Large	intestine
40	chr12:21590000-21591600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr12:21590000-21591600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:21590000-21591600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:21590000-21591600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr12:21590000-21591600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:21590000-21591600	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:21590000-21591600	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr12:21590000-21591600	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr12:21590000-21591600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:21590000-21591600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:21590000-21591600	Active TSS	Brain Angular Gyrus	brain

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