Variant report

Variant	rs6445528
Chromosome Location	chr3:52572447-52572448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:52570003-52572448	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr3:52570021-52572525	U87	brain:	n/a	n/a
3	POLR2A	chr3:52570015-52572568	U87	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52569931..52572827-chr3:52736282..52738188,2	K562	blood:
2	chr3:52570878..52573539-chr3:52577904..52579826,2	K562	blood:
3	chr3:52536407..52539525-chr3:52571038..52574825,3	K562	blood:
4	chr3:52488315..52491899-chr3:52569459..52572680,4	MCF-7	breast:
5	chr3:52008086..52010080-chr3:52571310..52572839,2	K562	blood:
6	chr3:52539372..52542636-chr3:52569567..52572921,4	MCF-7	breast:
7	chr3:52571791..52573974-chr3:52596279..52597923,2	K562	blood:

No data

Variant related genes	Relation type
NT5DC2	TF binding region
ENSG00000010322	Chromatin interaction
ENSG00000114779	Chromatin interaction
ENSG00000016864	Chromatin interaction
ENSG00000114786	Chromatin interaction
ENSG00000010327	Chromatin interaction
ENSG00000248487	Chromatin interaction

Extended variants
information (count: 192 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:187)

rs_ID	r²[population]
rs1010552	0.90[CHB][hapmap]
rs1010553	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs1010554	0.95[CHB][hapmap];0.89[CHD][hapmap]
rs10510760	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10780035	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs10865973	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10865974	0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs1108842	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap]
rs11130307	0.83[ASN][1000 genomes]
rs11130308	0.84[ASN][1000 genomes]
rs11130310	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs11130311	0.81[ASN][1000 genomes]
rs11130312	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11130313	0.82[ASN][1000 genomes]
rs11130314	0.81[ASN][1000 genomes]
rs11130315	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[ASN][1000 genomes]
rs11130317	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs11130323	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11177	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs11235	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1133415	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708075	0.85[ASN][1000 genomes]
rs11709284	0.93[ASN][1000 genomes]
rs11709448	0.82[ASN][1000 genomes]
rs11711421	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11714419	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.84[ASN][1000 genomes]
rs11714565	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.85[ASN][1000 genomes]
rs11716747	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap]
rs11717043	0.83[ASN][1000 genomes]
rs11718420	0.84[ASN][1000 genomes]
rs11718509	0.84[ASN][1000 genomes]
rs11720159	0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11720243	0.83[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11720432	0.83[ASN][1000 genomes]
rs12486847	0.81[ASN][1000 genomes]
rs12487445	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs12487591	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.83[ASN][1000 genomes]
rs12488461	0.91[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap]
rs12489732	0.98[ASN][1000 genomes]
rs12489828	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12496634	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs12498066	0.84[ASN][1000 genomes]
rs12629699	0.81[ASN][1000 genomes]
rs12629701	0.83[ASN][1000 genomes]
rs12632381	0.83[ASN][1000 genomes]
rs12635140	0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap]
rs13059862	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13060048	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13060675	0.81[ASN][1000 genomes]
rs13063160	0.83[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13064064	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.83[ASN][1000 genomes]
rs13065019	0.82[ASN][1000 genomes]
rs13065851	0.82[ASN][1000 genomes]
rs13068293	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.83[ASN][1000 genomes]
rs13069481	0.82[ASN][1000 genomes]
rs13076398	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13079063	0.83[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap]
rs13081028	0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.81[LWK][hapmap];0.82[ASN][1000 genomes]
rs13081031	0.82[ASN][1000 genomes]
rs13083798	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap]
rs13085331	0.84[ASN][1000 genomes]
rs13085775	0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs13085895	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13086297	0.82[ASN][1000 genomes]
rs13086898	0.81[ASN][1000 genomes]
rs13094915	0.81[CHB][hapmap]
rs13303	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs13621	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1561337	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.83[ASN][1000 genomes]
rs1570	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17052256	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17052259	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17264436	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1821879	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1866268	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs1961958	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.94[ASN][1000 genomes]
rs1961959	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2015971	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs2028216	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.80[ASN][1000 genomes]
rs2079929	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap]
rs2083180	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs2118540	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2164884	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[ASN][1000 genomes]
rs2164885	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap]
rs2251219	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268027	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2276824	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2289247	0.82[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs2289249	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.98[ASN][1000 genomes]
rs2289250	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.82[ASN][1000 genomes]
rs2336145	0.83[ASN][1000 genomes]
rs2336146	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs2336149	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.81[ASN][1000 genomes]
rs2577831	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap]
rs2590838	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap]
rs2590846	0.81[ASN][1000 genomes]
rs28661185	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2878628	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33964154	0.99[ASN][1000 genomes]
rs33967311	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.82[ASN][1000 genomes]
rs34005367	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34017441	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs34115864	0.85[ASN][1000 genomes]
rs34173654	0.83[ASN][1000 genomes]
rs34215106	0.83[ASN][1000 genomes]
rs34341238	0.80[ASN][1000 genomes]
rs34537256	0.83[ASN][1000 genomes]
rs34754793	0.84[ASN][1000 genomes]
rs34757451	0.82[ASN][1000 genomes]
rs34954168	0.85[ASN][1000 genomes]
rs35107891	0.84[ASN][1000 genomes]
rs35211965	0.82[ASN][1000 genomes]
rs35249778	0.83[ASN][1000 genomes]
rs35409678	0.80[ASN][1000 genomes]
rs35526119	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs35976524	0.81[ASN][1000 genomes]
rs3733039	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs3733041	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs3733045	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3755798	0.83[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs3755806	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.83[ASN][1000 genomes]
rs3774365	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3774366	0.81[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs3796353	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3852066	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs4234633	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4282054	1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.92[ASN][1000 genomes]
rs4434138	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4475032	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687546	0.85[ASN][1000 genomes]
rs4687547	0.85[ASN][1000 genomes]
rs4687548	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4687624	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687625	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687626	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687629	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4687630	0.81[ASN][1000 genomes]
rs4687633	0.84[ASN][1000 genomes]
rs4687636	0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs4687637	0.83[ASN][1000 genomes]
rs4687638	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.82[ASN][1000 genomes]
rs4687639	0.83[ASN][1000 genomes]
rs62253700	0.85[ASN][1000 genomes]
rs62253703	0.83[ASN][1000 genomes]
rs62253733	0.82[ASN][1000 genomes]
rs62255362	0.81[ASN][1000 genomes]
rs62256903	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6445529	0.82[ASN][1000 genomes]
rs6445534	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs6445535	0.83[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs6617	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs66782572	0.82[ASN][1000 genomes]
rs6762457	0.85[ASN][1000 genomes]
rs6762813	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs6768697	0.81[ASN][1000 genomes]
rs6770463	0.81[ASN][1000 genomes]
rs6778735	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6778844	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.98[ASN][1000 genomes]
rs6786043	0.83[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6786919	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6788887	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6788993	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6790330	0.83[ASN][1000 genomes]
rs6796726	0.81[ASN][1000 genomes]
rs6798246	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs68021750	0.85[ASN][1000 genomes]
rs6804145	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs6805156	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6976	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs731831	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs7611731	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs7614498	0.83[ASN][1000 genomes]
rs7614981	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7622694	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs7623199	0.85[ASN][1000 genomes]
rs7624716	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs7625743	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7628578	0.84[ASN][1000 genomes]
rs7636227	0.91[ASN][1000 genomes]
rs7638808	0.94[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];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7652191	0.83[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs767418	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap]
rs8906	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs9758945	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9853056	0.91[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap]
rs9879090	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs9917834	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers 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 miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs6445528	NEK4	cis	parietal	SCAN
rs6445528	GNL3	cis	parietal	SCAN
rs6445528	GLT8D1	cis	lymphoblastoid	seeQTL
rs6445528	RBM6	cis	parietal	SCAN
rs6445528	GNL3	cis	cerebellum	SCAN
rs6445528	PBRM1	cis	Thyroid	GTEx
rs6445528	NT5DC2	cis	lymphoblastoid	seeQTL
rs6445528	TMEM110	cis	parietal	SCAN
rs6445528	SPCS1	cis	parietal	SCAN
rs6445528	RBM6	cis	cerebellum	SCAN
rs6445528	MUSTN1	cis	Artery Aorta	GTEx
rs6445528	NEK4	cis	cerebellum	SCAN
rs6445528	NT5DC2	cis	Lymphoblastoid	GTEx
rs6445528	NT5DC2	cis	Skin Sun Exposed Lower leg	GTEx
rs6445528	GLT8D1	cis	brain	seeQTL
rs6445528	NT5DC2	cis	multi-tissue	Pritchard
rs6445528	TMEM110	cis	cerebellum	SCAN
rs6445528	FLJ12442	cis	multi-tissue	Pritchard
rs6445528	GLT8D1	trans	brain	seeQTL
rs6445528	NISCH	cis	parietal	SCAN
rs6445528	ITIH4	cis	multi-tissue	Pritchard
rs6445528	GLYCTK	cis	parietal	SCAN
rs6445528	ITIH4	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52570000-52573600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr3:52571000-52573400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:52571200-52572800	Enhancers	Spleen	Spleen
4	chr3:52571400-52572600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:52571400-52572600	Flanking Active TSS	NHEK	skin
6	chr3:52571400-52594200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:52571600-52572600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:52571600-52573400	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:52571600-52573400	Enhancers	Fetal Thymus	thymus
10	chr3:52571600-52573400	Enhancers	Small Intestine	intestine
11	chr3:52571600-52573600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:52571600-52573600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
13	chr3:52571800-52572600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr3:52571800-52573200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:52571800-52573400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:52571800-52573600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:52571800-52573800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:52571800-52574200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr3:52572000-52572600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:52572000-52573000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:52572000-52573000	Enhancers	Primary B cells from cord blood	blood
22	chr3:52572000-52573000	Enhancers	Gastric	stomach
23	chr3:52572000-52573200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:52572000-52573200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:52572000-52573400	Enhancers	Fetal Brain Male	brain
26	chr3:52572000-52573600	Enhancers	Primary hematopoietic stem cells	blood
27	chr3:52572000-52573600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:52572000-52573600	Enhancers	Esophagus	oesophagus
29	chr3:52572000-52573600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr3:52572000-52573600	Enhancers	Placenta	Placenta
31	chr3:52572000-52573600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr3:52572000-52574000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr3:52572200-52572600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:52572200-52572800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr3:52572200-52572800	Enhancers	Fetal Muscle Trunk	muscle
36	chr3:52572200-52573000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr3:52572200-52573000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:52572200-52573200	Enhancers	Brain Germinal Matrix	brain
39	chr3:52572200-52573200	Enhancers	Brain Substantia Nigra	brain
40	chr3:52572200-52573200	Enhancers	Fetal Lung	lung
41	chr3:52572200-52573200	Enhancers	Thymus	Thymus
42	chr3:52572200-52573400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:52572200-52573400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:52572200-52573400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:52572200-52573400	Enhancers	Stomach Mucosa	stomach
46	chr3:52572200-52573600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:52572200-52573600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr3:52572200-52573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:52572200-52573600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr3:52572200-52573600	Enhancers	Colon Smooth Muscle	Colon

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