Variant report

Variant	rs6503513
Chromosome Location	chr17:37561613-37561614
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	chr17:37560875-37561623	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:37560700-37562660	HepG2	liver:	n/a	n/a
3	STAT3	chr17:37561531-37561680	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr17:37561263-37561669	K562	blood:	n/a	n/a
5	POLR2A	chr17:37560671-37561712	K562	blood:	n/a	n/a
6	POLR2A	chr17:37561561-37561980	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr17:37560309-37562795	K562	blood:	n/a	n/a
8	JUND	chr17:37560595-37561622	SK-N-SH	brain:	n/a	chr17:37560964-37560975
9	POLR2A	chr17:37560637-37562832	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37560896..37563605-chr17:37565302..37568802,4	K562	blood:
2	chr17:37554166..37559579-chr17:37560149..37566486,7	MCF-7	breast:
3	chr17:37561135..37562914-chr17:37605744..37607400,2	MCF-7	breast:

Variant related genes	Relation type
FBXL20	TF binding region
ENSG00000108306	Chromatin interaction
ENSG00000266469	Chromatin interaction

Extended variants
information (count: 266 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:254)

rs_ID	r²[population]
rs10221223	0.93[ASN][1000 genomes]
rs10432030	0.82[ASN][1000 genomes]
rs10432031	0.81[ASN][1000 genomes]
rs10445305	0.82[AFR][1000 genomes]
rs10445306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[ASN][1000 genomes]
rs10445307	0.86[ASN][1000 genomes]
rs10491128	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.99[ASN][1000 genomes]
rs10491129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11078893	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11078894	0.85[CEU][hapmap];0.88[CHB][hapmap]
rs11078895	0.85[CEU][hapmap];0.88[CHB][hapmap]
rs11078896	0.86[ASN][1000 genomes]
rs11078897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11078898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11078900	0.93[ASN][1000 genomes]
rs11078901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[ASN][1000 genomes]
rs11078902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[ASN][1000 genomes]
rs11078903	0.87[ASN][1000 genomes]
rs11078904	0.86[ASN][1000 genomes]
rs11078906	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs11078907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs11650081	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11651089	0.82[ASN][1000 genomes]
rs11654018	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap]
rs11657058	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs11657153	0.85[CEU][hapmap]
rs11657899	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];0.95[YRI][hapmap];0.86[ASN][1000 genomes]
rs11658678	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11867312	0.93[ASN][1000 genomes]
rs11868029	0.86[ASN][1000 genomes]
rs11868030	0.86[ASN][1000 genomes]
rs11868133	0.92[ASN][1000 genomes]
rs11869109	0.94[ASN][1000 genomes]
rs11869259	0.94[ASN][1000 genomes]
rs11869323	0.95[ASN][1000 genomes]
rs11870631	0.87[ASN][1000 genomes]
rs11871813	0.82[ASN][1000 genomes]
rs12150047	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs12150493	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12449852	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs12450559	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap]
rs12452509	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12452682	0.87[ASN][1000 genomes]
rs12452880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[ASN][1000 genomes]
rs12600625	0.97[ASN][1000 genomes]
rs12600751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12936646	0.87[ASN][1000 genomes]
rs12936996	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap]
rs12937013	0.85[CEU][hapmap]
rs12937703	0.95[ASN][1000 genomes]
rs12938099	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs12938268	0.98[ASN][1000 genomes]
rs12939831	0.94[ASN][1000 genomes]
rs12942352	0.86[ASN][1000 genomes]
rs12942360	0.85[ASN][1000 genomes]
rs12943928	0.92[ASN][1000 genomes]
rs12947281	0.83[ASN][1000 genomes]
rs12947506	0.85[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs12947620	0.94[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.93[ASN][1000 genomes]
rs12948560	0.83[ASN][1000 genomes]
rs12948906	0.87[ASN][1000 genomes]
rs12950186	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs12950666	0.90[ASN][1000 genomes]
rs13341996	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs1966915	0.86[ASN][1000 genomes]
rs1966916	0.86[ASN][1000 genomes]
rs2024073	0.87[ASN][1000 genomes]
rs2061338	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.86[ASN][1000 genomes]
rs2061342	0.85[ASN][1000 genomes]
rs2100651	0.84[ASN][1000 genomes]
rs2168785	0.86[ASN][1000 genomes]
rs2302073	0.84[CEU][hapmap];0.88[CHB][hapmap]
rs2303316	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2338755	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.86[ASN][1000 genomes]
rs2338795	0.84[ASN][1000 genomes]
rs2338797	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2338798	0.97[ASN][1000 genomes]
rs2338799	0.84[CEU][hapmap];0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs2338800	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[MKK][hapmap];0.95[YRI][hapmap];0.93[ASN][1000 genomes]
rs2338801	0.90[ASN][1000 genomes]
rs2879258	0.85[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap]
rs28799952	0.82[ASN][1000 genomes]
rs33933929	0.85[ASN][1000 genomes]
rs34363096	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34432983	0.99[ASN][1000 genomes]
rs34473775	0.80[ASN][1000 genomes]
rs34597616	0.98[ASN][1000 genomes]
rs34627893	0.87[ASN][1000 genomes]
rs34957982	0.80[ASN][1000 genomes]
rs35112839	0.92[ASN][1000 genomes]
rs35285898	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs35497503	0.91[ASN][1000 genomes]
rs35546703	0.94[ASN][1000 genomes]
rs35667594	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs36064019	0.96[ASN][1000 genomes]
rs3744348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3744349	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs3964723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4239222	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4286140	0.89[ASN][1000 genomes]
rs4287601	0.80[ASN][1000 genomes]
rs4325601	0.85[ASN][1000 genomes]
rs4390625	0.94[ASW][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];0.90[YRI][hapmap];0.91[ASN][1000 genomes]
rs4410117	0.98[ASN][1000 genomes]
rs4462633	0.87[ASN][1000 genomes]
rs4511574	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4516267	0.85[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap]
rs4794807	0.95[ASN][1000 genomes]
rs4794808	0.82[ASN][1000 genomes]
rs4794810	0.93[ASN][1000 genomes]
rs4794814	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];0.90[YRI][hapmap]
rs4795355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4795356	0.83[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs4795357	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4795358	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs4795359	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4795361	0.83[ASN][1000 genomes]
rs4795362	0.83[ASN][1000 genomes]
rs4795364	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4795367	0.81[ASN][1000 genomes]
rs4795369	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4795371	0.86[ASN][1000 genomes]
rs4795379	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.82[TSI][hapmap]
rs55689507	0.86[ASN][1000 genomes]
rs55722796	0.90[ASN][1000 genomes]
rs57399933	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs57448077	0.87[ASN][1000 genomes]
rs582176	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs583980	0.84[ASN][1000 genomes]
rs584377	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs585961	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];0.92[MKK][hapmap];0.95[YRI][hapmap];0.87[ASN][1000 genomes]
rs587343	0.87[ASN][1000 genomes]
rs588193	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.87[ASN][1000 genomes]
rs590051	0.85[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap]
rs593480	0.92[CHB][hapmap];0.87[ASN][1000 genomes]
rs597069	0.85[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap]
rs600010	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs602282	0.85[ASN][1000 genomes]
rs602688	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs61161659	0.91[ASN][1000 genomes]
rs612209	0.84[ASN][1000 genomes]
rs620686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs632202	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs632606	0.85[ASN][1000 genomes]
rs634365	0.89[ASW][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.85[ASN][1000 genomes]
rs638201	0.87[ASN][1000 genomes]
rs644173	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs649180	0.85[CEU][hapmap];0.88[CHB][hapmap]
rs650106	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6503500	0.85[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs6503501	0.85[ASN][1000 genomes]
rs6503502	0.93[ASN][1000 genomes]
rs6503503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6503504	0.81[CEU][hapmap];0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs6503506	0.95[ASN][1000 genomes]
rs6503507	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[YRI][hapmap];0.95[ASN][1000 genomes]
rs6503515	0.93[ASN][1000 genomes]
rs6503517	0.86[ASN][1000 genomes]
rs667239	0.85[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap]
rs676882	0.82[CHB][hapmap];0.87[CHD][hapmap];0.89[MEX][hapmap]
rs677888	0.87[ASN][1000 genomes]
rs679995	0.87[ASN][1000 genomes]
rs68178216	0.95[ASN][1000 genomes]
rs683948	0.87[ASN][1000 genomes]
rs7208252	0.85[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs7208274	0.94[ASN][1000 genomes]
rs7208487	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7208714	0.96[ASN][1000 genomes]
rs7210488	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7212621	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.82[ASN][1000 genomes]
rs7215983	0.82[ASN][1000 genomes]
rs7216086	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs7218074	0.96[ASN][1000 genomes]
rs7218484	0.92[ASN][1000 genomes]
rs7218670	0.93[ASN][1000 genomes]
rs7219014	0.88[ASN][1000 genomes]
rs7219294	0.85[ASN][1000 genomes]
rs7220650	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];0.90[YRI][hapmap];0.93[ASN][1000 genomes]
rs7221117	0.81[ASN][1000 genomes]
rs7221875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7222252	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs7223331	0.93[ASN][1000 genomes]
rs7223438	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs7223896	0.83[ASN][1000 genomes]
rs7225096	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap]
rs73293051	0.94[ASN][1000 genomes]
rs7359658	0.91[ASN][1000 genomes]
rs7405667	0.98[ASN][1000 genomes]
rs7501488	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7503069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7503081	0.83[ASN][1000 genomes]
rs7503377	0.85[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs7503705	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];0.95[YRI][hapmap]
rs752314	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.86[ASN][1000 genomes]
rs755500	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs801418	0.85[CEU][hapmap];0.88[CHB][hapmap]
rs801419	0.87[ASN][1000 genomes]
rs801420	0.87[ASN][1000 genomes]
rs801426	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];0.87[ASN][1000 genomes]
rs801427	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.89[MEX][hapmap]
rs8065879	0.95[ASN][1000 genomes]
rs8065963	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];0.90[YRI][hapmap]
rs8066704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[ASN][1000 genomes]
rs8067302	0.93[ASN][1000 genomes]
rs8067511	0.80[ASN][1000 genomes]
rs8067948	0.93[ASN][1000 genomes]
rs8068427	0.92[ASN][1000 genomes]
rs8069074	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs8069451	0.94[ASW][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap]
rs8070695	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs8072297	0.90[ASN][1000 genomes]
rs8072351	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8073511	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8073907	0.85[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap]
rs8074855	0.81[ASN][1000 genomes]
rs8076462	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8076494	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs8076546	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.99[ASN][1000 genomes]
rs8077104	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8079303	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8079355	0.85[ASN][1000 genomes]
rs8079560	0.93[ASN][1000 genomes]
rs8079590	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];0.86[ASN][1000 genomes]
rs8079662	0.86[ASN][1000 genomes]
rs8081033	0.92[ASN][1000 genomes]
rs8081220	0.87[ASN][1000 genomes]
rs8081338	0.86[ASN][1000 genomes]
rs8081780	0.86[ASN][1000 genomes]
rs9646419	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs9747342	0.87[ASN][1000 genomes]
rs9892055	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[YRI][hapmap];0.92[ASN][1000 genomes]
rs9892675	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9893735	0.85[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap]
rs9894500	0.95[ASN][1000 genomes]
rs9894586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[ASN][1000 genomes]
rs9894864	0.92[ASN][1000 genomes]
rs9896913	0.95[ASN][1000 genomes]
rs9898170	0.94[ASN][1000 genomes]
rs9898773	0.95[ASN][1000 genomes]
rs9899069	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9901219	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9903363	0.93[ASN][1000 genomes]
rs9904334	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.87[ASN][1000 genomes]
rs9904919	1.00[ASN][1000 genomes]
rs9905432	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9905617	0.93[ASN][1000 genomes]
rs9906612	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9908131	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.82[ASN][1000 genomes]
rs9908760	0.93[ASN][1000 genomes]
rs9909064	0.93[ASN][1000 genomes]
rs9913320	0.86[ASN][1000 genomes]
rs9916302	0.90[ASN][1000 genomes]
rs9944411	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs9944459	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
11	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
12	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6503513	DHRS11	cis	cerebellum	SCAN
rs6503513	IGFBP4	cis	parietal	SCAN
rs6503513	RDM1	cis	cerebellum	SCAN
rs6503513	SLFN14	cis	parietal	SCAN
rs6503513	SPACA3	cis	parietal	SCAN
rs6503513	CCL4	cis	cerebellum	SCAN
rs6503513	GSDMA	cis	parietal	SCAN
rs6503513	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37558400-37566000	Weak transcription	Stomach Mucosa	stomach
2	chr17:37558400-37583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:37558600-37563600	Weak transcription	Fetal Brain Male	brain
4	chr17:37558800-37562200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:37558800-37563200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:37558800-37563600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:37558800-37563600	Weak transcription	Aorta	Aorta
8	chr17:37558800-37563600	Weak transcription	Esophagus	oesophagus
9	chr17:37558800-37563600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:37558800-37563800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:37558800-37563800	Weak transcription	Spleen	Spleen
12	chr17:37558800-37564000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:37558800-37564000	Weak transcription	Gastric	stomach
14	chr17:37558800-37566400	Weak transcription	Small Intestine	intestine
15	chr17:37559000-37562400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:37559000-37563000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:37559000-37563000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr17:37559000-37563800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr17:37559000-37563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:37559000-37563800	Weak transcription	Lung	lung
21	chr17:37559000-37563800	Weak transcription	Pancreas	Pancrea
22	chr17:37559000-37564000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:37559000-37564000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:37559000-37564000	Weak transcription	Colonic Mucosa	Colon
25	chr17:37559000-37564200	Weak transcription	Right Ventricle	heart
26	chr17:37559000-37564600	Weak transcription	Ovary	ovary
27	chr17:37559000-37566000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:37559000-37571000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:37559000-37571200	Weak transcription	Right Atrium	heart
30	chr17:37559000-37606600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr17:37559200-37561800	Weak transcription	Primary T cells from cord blood	blood
32	chr17:37559200-37561800	Weak transcription	Fetal Kidney	kidney
33	chr17:37559200-37561800	Weak transcription	HSMMtube	muscle
34	chr17:37559200-37562000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr17:37559200-37562000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr17:37559200-37562000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr17:37559200-37562400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr17:37559200-37562400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr17:37559200-37562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr17:37559200-37563000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:37559200-37563600	Weak transcription	Brain Angular Gyrus	brain
42	chr17:37559200-37563800	Weak transcription	Fetal Stomach	stomach
43	chr17:37559200-37564000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr17:37559200-37564000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr17:37559200-37565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:37559200-37571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr17:37559400-37561800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:37559400-37561800	Weak transcription	Dnd41	blood
49	chr17:37559400-37562000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr17:37559400-37562000	Weak transcription	Adipose Nuclei	Adipose

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