Variant report

Variant	rs3754872
Chromosome Location	chr2:99223925-99223926
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99223581-99226273	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:99222297-99227404	K562	blood:	n/a	n/a
3	CHD1	chr2:99223707-99226358	IMR90	lung:	n/a	n/a
4	MXI1	chr2:99223672-99226891	IMR90	lung:	n/a	n/a
5	JUND	chr2:99223911-99225478	K562	blood:	n/a	n/a
6	POLR2A	chr2:99222950-99226515	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:99222591-99226334	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:99223856-99225974	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:99223020-99226264	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr2:99222985-99223965	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr2:99223856-99226356	GM12892	blood:	n/a	n/a
12	POLR2A	chr2:99223642-99226324	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:99223622-99226514	IMR90	lung:	n/a	n/a
14	MYBL2	chr2:99223896-99225553	HepG2	liver:	n/a	n/a
15	HEY1	chr2:99223845-99225819	K562	blood:	n/a	chr2:99225561-99225576 chr2:99225031-99225046 chr2:99225602-99225617
16	POLR2A	chr2:99223580-99225715	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99223862..99225617-chr2:99483733..99486358,2	MCF-7	breast:
2	chr2:99223609..99227969-chr2:99231004..99234291,6	MCF-7	breast:
3	chr2:99221188..99224105-chr2:99225000..99227009,2	K562	blood:
4	chr2:99204321..99207131-chr2:99222784..99224374,2	K562	blood:
5	chr2:99176669..99178423-chr2:99222546..99224803,2	K562	blood:
6	chr2:99220491..99222361-chr2:99223823..99225591,2	MCF-7	breast:

Variant related genes	Relation type
UNC50	TF binding region
COA5	TF binding region
ENSG00000183513	Chromatin interaction
ENSG00000196872	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10199199	0.83[EUR][1000 genomes]
rs10496327	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs10514774	0.83[EUR][1000 genomes]
rs1139829	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11537554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11884553	0.93[ASW][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11888595	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11892744	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11896729	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.84[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];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11901568	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11902825	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12052639	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12617721	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12618524	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes]
rs12618769	0.83[YRI][hapmap]
rs12619665	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12622341	0.87[EUR][1000 genomes]
rs13402379	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1516085	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1587835	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs17031139	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031146	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031905	0.86[ASW][hapmap];0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17032120	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17032866	0.85[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17032870	0.85[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17033136	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17033813	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17034171	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17034241	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444095	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs17446058	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17502889	0.83[EUR][1000 genomes]
rs17504774	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17505088	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17505326	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17506535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513468	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1847550	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2230388	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278206	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278207	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278208	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2278211	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278212	0.86[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2278213	0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2278214	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2309390	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3203856	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906456	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3729568	0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3754871	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754877	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754878	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754879	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754880	0.84[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3754881	0.86[ASW][hapmap];0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3754883	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3754884	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754885	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754886	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754888	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3754889	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754890	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754891	0.86[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3754892	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs3754893	0.84[EUR][1000 genomes]
rs3769697	0.83[YRI][hapmap]
rs3769698	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769701	0.94[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769708	0.95[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769709	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769712	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769713	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3769715	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769716	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769717	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769719	0.85[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769723	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769724	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769725	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769726	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769727	0.88[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769728	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769729	0.86[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769730	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769733	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769734	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769735	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769736	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769737	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769738	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769740	0.86[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769741	0.86[ASW][hapmap];0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769743	0.86[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820941	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820943	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820945	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4596026	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4599165	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4850874	0.86[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850875	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs4850876	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850877	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850878	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850879	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4851131	0.83[EUR][1000 genomes]
rs4851136	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs4851138	0.86[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs4851140	0.88[EUR][1000 genomes]
rs4851141	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851142	0.85[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4851144	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851145	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[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];0.89[ASN][1000 genomes]
rs4851146	0.92[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.84[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55900716	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55934321	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56091613	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56118505	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56141907	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56197140	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56232707	0.83[EUR][1000 genomes]
rs56240302	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56333112	0.82[EUR][1000 genomes]
rs56357378	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58778964	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61180742	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6542754	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6728891	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6736755	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6753380	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6753515	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72819965	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819970	0.83[EUR][1000 genomes]
rs72819971	0.83[EUR][1000 genomes]
rs72819972	0.83[EUR][1000 genomes]
rs72819981	0.83[EUR][1000 genomes]
rs72819996	0.86[EUR][1000 genomes]
rs72820002	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821904	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821907	0.88[EUR][1000 genomes]
rs72821908	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72821920	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72821924	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72821930	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72821939	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72821943	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72821946	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72821951	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72821955	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72821956	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72821965	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823788	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823792	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823794	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823796	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72823801	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562232	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7585747	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7585939	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7588254	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs961242	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3754872	UNC50	cis	lymphoblastoid	seeQTL
rs3754872	INPP4A	cis	lymphoblastoid	seeQTL
rs3754872	UNC50	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99221600-99224000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:99222400-99224000	Enhancers	Aorta	Aorta
3	chr2:99222400-99224000	Enhancers	Small Intestine	intestine
4	chr2:99222600-99224000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:99222600-99224000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:99222600-99224000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:99222600-99224000	Enhancers	Gastric	stomach
8	chr2:99222600-99224400	Enhancers	Spleen	Spleen
9	chr2:99222800-99224000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:99222800-99224000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:99222800-99224000	Enhancers	Esophagus	oesophagus
12	chr2:99222800-99224000	Enhancers	Left Ventricle	heart
13	chr2:99222800-99224000	Enhancers	Pancreas	Pancrea
14	chr2:99222800-99224400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr2:99223000-99224000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:99223000-99224000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:99223000-99224000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:99223000-99224000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:99223000-99224000	Enhancers	Fetal Stomach	stomach
20	chr2:99223000-99224000	Enhancers	Lung	lung
21	chr2:99223000-99224000	Enhancers	Ovary	ovary
22	chr2:99223000-99224000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:99223000-99224000	Enhancers	Stomach Mucosa	stomach
24	chr2:99223000-99224000	Enhancers	Thymus	Thymus
25	chr2:99223000-99224000	Flanking Active TSS	HepG2	liver
26	chr2:99223000-99224000	Active TSS	HSMMtube	muscle
27	chr2:99223000-99224200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:99223000-99224200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:99223000-99224200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr2:99223000-99224200	Flanking Active TSS	GM12878-XiMat	blood
31	chr2:99223000-99224400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:99223000-99224400	Flanking Active TSS	Dnd41	blood
33	chr2:99223000-99224600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:99223000-99225000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:99223200-99224000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:99223200-99224000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:99223200-99224000	Enhancers	Placenta	Placenta
38	chr2:99223200-99224200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:99223200-99224200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr2:99223200-99224400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:99223200-99224400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr2:99223200-99224400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:99223200-99224400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr2:99223200-99224400	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr2:99223200-99224600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:99223200-99224800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr2:99223200-99226600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr2:99223200-99226800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:99223400-99224000	Enhancers	Primary B cells from cord blood	blood
50	chr2:99223400-99224000	Flanking Active TSS	A549	lung

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