Variant report

Variant	rs6445534
Chromosome Location	chr3:52743384-52743385
allele	A/G
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	chr3:52743106-52743536	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52718628..52724105-chr3:52738117..52743946,12	MCF-7	breast:
2	chr3:52738473..52741784-chr3:52742214..52745484,3	MCF-7	breast:

Variant related genes	Relation type
GLT8D1	TF binding region
ENSG00000163939	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000016864	Chromatin interaction
ENSG00000252787	Chromatin interaction
ENSG00000114902	Chromatin interaction
ENSG00000212493	Chromatin interaction

Extended variants
information (count: 274 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:272)

rs_ID	r²[population]
rs1014969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1029871	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1042779	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs10433615	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10510760	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1075653	0.82[JPT][hapmap]
rs1076425	0.82[JPT][hapmap]
rs10780035	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10865973	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10865974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10933	0.87[ASN][1000 genomes]
rs1108842	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs11130307	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11130308	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11130310	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130311	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11130312	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130313	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130314	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130315	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130317	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130318	0.85[EUR][1000 genomes]
rs11130319	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130321	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11130323	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11130324	0.85[ASN][1000 genomes]
rs11130325	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130326	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130327	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11177	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs1133415	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11708075	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11709448	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11711421	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs11714030	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11714088	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11714419	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11714565	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11716747	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11717043	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11717836	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11718420	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11718509	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11719514	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11720159	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11720243	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11720432	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12486554	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12486847	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12487445	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12487591	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12488461	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12488527	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12489828	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs12493107	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12496476	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12496634	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12497998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12498066	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12629699	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12629701	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12632265	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12632381	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12635140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13059862	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13060048	0.80[EUR][1000 genomes]
rs13060675	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13061253	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13061423	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13063160	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13064064	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13065019	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13065851	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13068293	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13069481	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13071584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13074853	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13076193	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13078422	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13079063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081028	0.86[CHB][hapmap]
rs13081031	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13081155	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13082208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13082960	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13083798	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13085331	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13085775	0.87[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13085895	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13086297	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13086898	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13087772	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13094778	0.83[AMR][1000 genomes]
rs13095332	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13098776	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13303	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs1468638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1561337	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17052256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs17052259	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.80[EUR][1000 genomes]
rs17264436	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1821879	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1866268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1961958	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1961959	0.88[CEU][hapmap];0.92[CHB][hapmap];0.96[JPT][hapmap]
rs2019065	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2028216	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071506	0.82[JPT][hapmap]
rs2071507	0.87[JPT][hapmap]
rs2071508	0.82[JPT][hapmap]
rs2072390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2079929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2083180	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2109634	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2118540	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2159644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2164884	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2164885	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2230534	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2230535	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2239549	0.82[JPT][hapmap]
rs2239551	0.82[JPT][hapmap]
rs2240919	0.82[JPT][hapmap]
rs2240920	0.87[JPT][hapmap]
rs2251219	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2268023	0.82[JPT][hapmap]
rs2268024	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2268025	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2268026	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2268027	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2270197	0.82[JPT][hapmap]
rs2276824	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs2286798	0.87[JPT][hapmap]
rs2286800	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2289249	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2289250	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300149	0.82[JPT][hapmap]
rs2336145	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2336146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2336148	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2336149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2336542	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2336545	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535629	0.83[CHB][hapmap]
rs2577831	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2590838	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2590846	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2878628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2878726	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33967311	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34017441	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34115864	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34157897	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34168767	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34173654	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34215106	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34291015	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34341238	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34537256	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34610142	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34610878	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34739010	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34754793	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34757451	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34918356	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34954168	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35107891	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35211965	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35212380	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35249778	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35315313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35409678	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35526119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35976524	0.94[ASN][1000 genomes]
rs3617	0.82[CHB][hapmap]
rs3733039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3733041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3733045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3755798	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755806	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3774349	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3774354	0.82[JPT][hapmap]
rs3774365	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3774366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3796353	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs3852066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4130905	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4282054	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs4336110	0.87[EUR][1000 genomes]
rs4435633	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4475032	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4687546	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4687547	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4687548	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4687549	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687550	0.82[JPT][hapmap]
rs4687625	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4687626	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4687629	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4687630	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4687633	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4687636	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687637	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687638	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687639	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687648	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687650	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62253700	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62253703	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62253733	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62255362	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62255364	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255371	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62255396	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6414569	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6414570	0.83[AMR][1000 genomes]
rs6445528	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs6445529	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6445531	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6445535	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6617	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67539070	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6762457	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6762813	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6768697	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6770463	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6778329	0.86[JPT][hapmap]
rs6778735	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6778844	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs678	0.87[JPT][hapmap]
rs6786043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs6786919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs6787154	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6788887	0.82[EUR][1000 genomes]
rs6788993	0.82[EUR][1000 genomes]
rs6790330	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6796726	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6798246	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs68021750	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6803012	0.91[CEU][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6804145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6805156	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6976	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7611731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7612511	0.83[ASN][1000 genomes]
rs7614498	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7614981	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7620039	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7622694	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7623199	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7624716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7625743	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7628578	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7638162	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7638808	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7642198	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7646741	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7652191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7653028	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs767418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8906	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9324	0.82[JPT][hapmap]
rs9714129	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9758945	0.82[EUR][1000 genomes]
rs9853056	0.86[CHB][hapmap]
rs9879090	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs9881468	0.82[JPT][hapmap]
rs9917834	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998909	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv508219	chr3:52741193-52803899	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6445534	FLJ12442	cis	multi-tissue	Pritchard
rs6445534	PBRM1	cis	Artery Tibial	GTEx
rs6445534	PBRM1	cis	Thyroid	GTEx
rs6445534	NT5DC2	cis	multi-tissue	Pritchard
rs6445534	NT5DC2	Cis_1M	lymphoblastoid	RTeQTL
rs6445534	SPCS1	cis	multi-tissue	Pritchard
rs6445534	GLT8D1	Cis_1M	lymphoblastoid	RTeQTL
rs6445534	MUSTN1	cis	Artery Aorta	GTEx
rs6445534	NT5DC2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52741000-52746400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:52741000-52748200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:52741000-52748200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:52741000-52748800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:52741000-52748800	Weak transcription	Lung	lung
6	chr3:52741200-52748200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:52741400-52746600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:52741400-52747000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:52741400-52765600	Weak transcription	Aorta	Aorta
10	chr3:52741400-52766600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:52741600-52743600	Weak transcription	Left Ventricle	heart
12	chr3:52741600-52746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:52741600-52746400	Weak transcription	Gastric	stomach
14	chr3:52741600-52746400	Weak transcription	Spleen	Spleen
15	chr3:52741600-52746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:52741600-52747000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:52741600-52747000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:52741600-52748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:52741600-52748200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:52741600-52748200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:52741600-52748400	Weak transcription	Colonic Mucosa	Colon
22	chr3:52741600-52748400	Weak transcription	Right Ventricle	heart
23	chr3:52741600-52748600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:52741600-52748600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:52741600-52752600	Weak transcription	Ovary	ovary
26	chr3:52741600-52752600	Weak transcription	A549	lung
27	chr3:52741600-52764000	Weak transcription	Small Intestine	intestine
28	chr3:52741600-52765600	Weak transcription	Esophagus	oesophagus
29	chr3:52741600-52804000	Weak transcription	Psoas Muscle	Psoas
30	chr3:52741800-52743400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:52741800-52743400	Strong transcription	Brain Substantia Nigra	brain
32	chr3:52741800-52743600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr3:52741800-52743600	Strong transcription	Placenta	Placenta
34	chr3:52741800-52744000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:52741800-52744000	Strong transcription	Fetal Muscle Leg	muscle
36	chr3:52741800-52744600	Strong transcription	Fetal Intestine Large	intestine
37	chr3:52741800-52746800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr3:52741800-52747400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:52741800-52748400	Weak transcription	Fetal Heart	heart
40	chr3:52742000-52743400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:52742000-52743400	Strong transcription	Liver	Liver
42	chr3:52742000-52743600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:52742000-52744000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:52742000-52744000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:52742000-52744000	Strong transcription	Adipose Nuclei	Adipose
46	chr3:52742000-52744000	Strong transcription	Fetal Kidney	kidney
47	chr3:52742000-52744000	Strong transcription	Fetal Lung	lung
48	chr3:52742000-52744200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:52742000-52744400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:52742000-52744600	Genic enhancers	Primary B cells from cord blood	blood

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