Variant report

Variant	rs10521167
Chromosome Location	chr16:48269561-48269562
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	MAX	chr16:48269111-48270009	HepG2	liver:	n/a	n/a
2	ESR1	chr16:48269510-48270150	T-47D	breast:	n/a	chr16:48269734-48269751
3	RCOR1	chr16:48269356-48269997	HepG2	liver:	n/a	n/a
4	HNF4A	chr16:48269352-48269957	HepG2	liver:	n/a	chr16:48269728-48269741 chr16:48269728-48269741 chr16:48269729-48269741 chr16:48269726-48269744 chr16:48269729-48269741 chr16:48269728-48269742 chr16:48269728-48269741 chr16:48269729-48269741 chr16:48269706-48269714 chr16:48269729-48269742 chr16:48269728-48269742 chr16:48269727-48269742 chr16:48269564-48269572 chr16:48269730-48269742
5	SP1	chr16:48269384-48269993	HepG2	liver:	n/a	n/a
6	CEBPB	chr16:48269529-48269963	HepG2	liver:	n/a	chr16:48269778-48269789
7	ELF1	chr16:48269334-48269855	HepG2	liver:	n/a	chr16:48269551-48269560
8	CHD2	chr16:48269561-48269916	HepG2	liver:	n/a	n/a
9	ESR1	chr16:48269532-48270020	T-47D	breast:	n/a	chr16:48269734-48269751
10	CEBPB	chr16:48269549-48269974	HepG2	liver:	n/a	chr16:48269778-48269789
11	GABPA	chr16:48269334-48269849	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr16:48269383-48270219	MCF-7	breast:	n/a	n/a
13	SMC3	chr16:48269377-48270057	HepG2	liver:	n/a	n/a
14	EP300	chr16:48269499-48269894	HepG2	liver:	n/a	n/a
15	MYBL2	chr16:48269105-48269999	HepG2	liver:	n/a	n/a
16	ARID3A	chr16:48268964-48269997	HepG2	liver:	n/a	n/a
17	FOXA1	chr16:48269456-48270136	T-47D	breast:	n/a	n/a
18	ELF1	chr16:48269370-48269969	MCF-7	breast:	n/a	chr16:48269551-48269560
19	POLR2A	chr16:48269095-48270544	HepG2	liver:	n/a	n/a
20	FOXA1	chr16:48269448-48269988	HepG2	liver:	n/a	n/a
21	CEBPB	chr16:48269552-48270034	MCF-7	breast:	n/a	chr16:48269778-48269789
22	HEY1	chr16:48269237-48269926	HepG2	liver:	n/a	n/a
23	MAFF	chr16:48269092-48269920	HepG2	liver:	n/a	chr16:48269154-48269172
24	FOXA1	chr16:48269063-48270023	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:48269371-48269791	HepG2	liver:	n/a	n/a
26	ELF1	chr16:48269260-48269889	HepG2	liver:	n/a	chr16:48269551-48269560
27	TEAD4	chr16:48268929-48270643	HepG2	liver:	n/a	n/a
28	FOXA2	chr16:48269556-48269928	HepG2	liver:	n/a	n/a
29	JUND	chr16:48269468-48270266	T-47D	breast:	n/a	chr16:48270044-48270053
30	REST	chr16:48269277-48269846	HepG2	liver:	n/a	n/a
31	BHLHE40	chr16:48269108-48270531	HepG2	liver:	n/a	n/a
32	EP300	chr16:48269549-48270009	MCF-7	breast:	n/a	n/a
33	MAFK	chr16:48269100-48269857	HepG2	liver:	n/a	n/a
34	ESR1	chr16:48269482-48270206	T-47D	breast:	n/a	chr16:48269734-48269751
35	HDAC2	chr16:48269282-48270087	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:48269340-48269968	HepG2	liver:	n/a	n/a
37	MXI1	chr16:48269291-48269973	HepG2	liver:	n/a	n/a
38	MYBL2	chr16:48269255-48269907	HepG2	liver:	n/a	n/a
39	GATA3	chr16:48269486-48270266	MCF-7	breast:	n/a	chr16:48270044-48270054
40	EP300	chr16:48269478-48270168	T-47D	breast:	n/a	n/a
41	ELF1	chr16:48269470-48270018	MCF-7	breast:	n/a	chr16:48269551-48269560
42	ESR1	chr16:48269510-48270153	T-47D	breast:	n/a	chr16:48269734-48269751
43	NR2C2	chr16:48269347-48269768	HepG2	liver:	n/a	chr16:48269728-48269741
44	GATA3	chr16:48269542-48270200	T-47D	breast:	n/a	chr16:48270044-48270054
45	TBP	chr16:48269127-48270722	HepG2	liver:	n/a	n/a
46	FOXA1	chr16:48269006-48270054	HepG2	liver:	n/a	n/a
47	NFIC	chr16:48269326-48269937	HepG2	liver:	n/a	n/a
48	EP300	chr16:48269338-48270010	HepG2	liver:	n/a	chr16:48269383-48269393
49	GABPA	chr16:48269368-48269682	HepG2	liver:	n/a	n/a
50	NR2F2	chr16:48269473-48270105	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:48269384..48269889-chr16:48281357..48281992,2	MCF-7	breast:
2	chr16:48269492..48271775-chr16:48398713..48400285,2	K562	blood:
3	chr16:48264506..48269686-chr16:48276668..48281172,8	MCF-7	breast:

Variant related genes	Relation type
ABCC11	TF binding region
ENSG00000121270	Chromatin interaction
ENSG00000102910	Chromatin interaction
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10048092	1.00[ASN][1000 genomes]
rs10221107	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11076561	1.00[ASN][1000 genomes]
rs11076562	1.00[ASN][1000 genomes]
rs11076564	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076565	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11552148	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11859911	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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];1.00[ASN][1000 genomes]
rs11860789	1.00[ASN][1000 genomes]
rs11861348	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11861379	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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];1.00[ASN][1000 genomes]
rs11862480	0.91[CEU][hapmap]
rs11863133	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11863233	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11863236	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11863414	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865596	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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];1.00[ASN][1000 genomes]
rs11866225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866312	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12103095	1.00[ASN][1000 genomes]
rs12149230	1.00[ASN][1000 genomes]
rs12149393	1.00[ASN][1000 genomes]
rs13330082	1.00[ASN][1000 genomes]
rs13330105	1.00[ASN][1000 genomes]
rs13331031	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331250	1.00[ASN][1000 genomes]
rs13332304	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13334052	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13334480	1.00[CEU][hapmap]
rs13335504	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13336542	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336625	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336759	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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];1.00[ASN][1000 genomes]
rs13336771	1.00[ASN][1000 genomes]
rs13337955	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338105	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338978	1.00[ASN][1000 genomes]
rs1386053	1.00[ASN][1000 genomes]
rs1545942	1.00[ASN][1000 genomes]
rs16945972	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16945974	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16945988	1.00[ASW][hapmap];0.83[CEU][hapmap];0.83[GIH][hapmap];0.97[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];1.00[ASN][1000 genomes]
rs16945990	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946006	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946011	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946014	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16946038	1.00[ASN][1000 genomes]
rs16946039	1.00[ASN][1000 genomes]
rs16946122	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1843647	1.00[ASN][1000 genomes]
rs2129245	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376623	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28378550	1.00[ASN][1000 genomes]
rs28470315	1.00[ASN][1000 genomes]
rs28503414	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28515165	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605399	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28617382	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs28626252	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28654935	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28684834	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28696036	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28716153	1.00[ASN][1000 genomes]
rs28718435	1.00[ASN][1000 genomes]
rs28823370	1.00[ASN][1000 genomes]
rs28842015	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28849445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34135802	1.00[ASN][1000 genomes]
rs4325548	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4528570	1.00[ASN][1000 genomes]
rs5017203	1.00[EUR][1000 genomes]
rs56385363	1.00[ASN][1000 genomes]
rs56829365	1.00[ASN][1000 genomes]
rs58409512	1.00[ASN][1000 genomes]
rs58938063	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59916796	1.00[ASN][1000 genomes]
rs60431412	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60745528	1.00[ASN][1000 genomes]
rs60760669	1.00[ASN][1000 genomes]
rs61122640	1.00[ASN][1000 genomes]
rs61676712	1.00[ASN][1000 genomes]
rs6500385	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs70973926	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184452	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186777	1.00[ASN][1000 genomes]
rs7186982	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187166	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7191181	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7195606	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs7202089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203378	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7203432	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203659	1.00[ASN][1000 genomes]
rs73540901	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73542903	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73542904	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73546434	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73546437	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73546439	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555628	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555630	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562063	1.00[ASN][1000 genomes]
rs7359477	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043685	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043751	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][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];1.00[ASN][1000 genomes]
rs8043803	1.00[ASN][1000 genomes]
rs8045819	1.00[ASN][1000 genomes]
rs8046408	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8047397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048098	1.00[ASN][1000 genomes]
rs8049398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051186	1.00[ASN][1000 genomes]
rs8051441	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8051546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051852	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054117	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054314	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8054444	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8055028	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8055128	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8055764	1.00[ASN][1000 genomes]
rs8056100	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][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]
rs8056143	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056692	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056846	1.00[ASN][1000 genomes]
rs8058396	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8060696	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8060722	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8060780	1.00[ASN][1000 genomes]
rs8062407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8190	1.00[ASN][1000 genomes]
rs9302757	1.00[ASN][1000 genomes]
rs9302758	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs9923897	1.00[ASN][1000 genomes]
rs9924184	1.00[ASN][1000 genomes]
rs9924497	0.83[ASN][1000 genomes]
rs9925591	1.00[ASN][1000 genomes]
rs9925772	0.83[LWK][hapmap];1.00[ASN][1000 genomes]
rs9925935	1.00[ASN][1000 genomes]
rs9926206	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926363	1.00[ASN][1000 genomes]
rs9927756	1.00[CEU][hapmap]
rs9929978	0.83[ASN][1000 genomes]
rs9931294	1.00[ASN][1000 genomes]
rs9932328	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932964	1.00[ASN][1000 genomes]
rs9933211	1.00[ASN][1000 genomes]
rs9934833	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935854	1.00[CEU][hapmap]
rs9937882	1.00[ASN][1000 genomes]
rs9938003	1.00[ASN][1000 genomes]
rs9938414	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938490	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs9938523	1.00[ASN][1000 genomes]
rs9939742	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9940038	1.00[CHD][hapmap]
rs9941123	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap]

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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10521167	LONP2	cis	cerebellum	SCAN
rs10521167	LONP2	cis	parietal	SCAN
rs10521167	GPT2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48264600-48270000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:48269000-48269600	Flanking Active TSS	Liver	Liver
3	chr16:48269000-48270200	Enhancers	A549	lung
4	chr16:48269000-48270400	Flanking Active TSS	HepG2	liver
5	chr16:48269200-48270400	Enhancers	Stomach Mucosa	stomach
6	chr16:48269400-48269600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:48269400-48269800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:48269400-48270400	Enhancers	Duodenum Mucosa	Duodenum

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Variant report

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