Variant report

Variant	rs11657899
Chromosome Location	chr17:37626963-37626964
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	STAT3	chr17:37626810-37626984	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr17:37626826-37627024	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CDK12	TF binding region

Extended variants
information (count: 235 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:223)

rs_ID	r²[population]
rs10221223	0.81[EUR][1000 genomes]
rs10445305	0.80[EUR][1000 genomes]
rs10445306	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10445307	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10491128	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10491129	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1053651	0.84[CEU][hapmap]
rs10775391	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1077715	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10852933	0.81[EUR][1000 genomes]
rs11078898	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11078900	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11078902	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11078903	0.90[CEU][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11078904	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078905	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078910	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078911	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078912	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078913	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11650081	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11650146	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11651089	0.83[EUR][1000 genomes]
rs11654018	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs11655531	0.81[EUR][1000 genomes]
rs11657058	0.82[CHB][hapmap]
rs11658678	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11659010	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11867312	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868029	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868030	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868133	0.83[ASN][1000 genomes]
rs11869109	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11869259	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11869323	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11870631	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12150047	0.82[CHB][hapmap];0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs12150493	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12449852	0.82[CHB][hapmap];0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs12450559	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs12451586	0.90[AMR][1000 genomes]
rs12452509	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452682	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12452880	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12453397	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12600625	0.84[ASN][1000 genomes]
rs12600751	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12936646	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12936996	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12937703	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12938099	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs12938268	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12939831	0.81[ASN][1000 genomes]
rs12942352	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12942360	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12943928	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12947281	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12947506	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs12947600	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12947620	0.94[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12948560	0.81[EUR][1000 genomes]
rs12948906	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12950666	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12952384	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13341996	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2018026	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271308	0.85[CEU][hapmap]
rs2302073	0.88[CHB][hapmap]
rs2303316	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2338797	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2338798	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2338799	0.87[CHB][hapmap]
rs2338800	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs34363096	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34432983	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34597616	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34957982	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35112839	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35285898	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35497503	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35546703	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35667594	0.88[EUR][1000 genomes]
rs36064019	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3889368	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4239222	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4286140	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4390625	0.94[ASW][hapmap];0.90[CEU][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4410117	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4462633	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4511574	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4516267	0.88[CHB][hapmap];0.90[CHD][hapmap]
rs4794807	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4794809	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4794810	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4794813	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4794814	1.00[ASW][hapmap];0.95[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];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs4795355	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4795356	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4795357	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4795358	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs4795359	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4795361	0.82[EUR][1000 genomes]
rs4795362	0.81[EUR][1000 genomes]
rs4795364	0.87[ASN][1000 genomes]
rs4795367	0.84[ASN][1000 genomes]
rs4795369	0.82[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4795371	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4795376	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4795377	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4795379	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs4795382	0.81[EUR][1000 genomes]
rs55660616	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55722796	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57399933	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57448077	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582176	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs584377	0.82[CHB][hapmap]
rs585961	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs588193	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap]
rs590051	0.88[CHB][hapmap];0.90[CHD][hapmap]
rs593480	0.92[CHB][hapmap]
rs597069	0.87[CHB][hapmap];0.90[CHD][hapmap]
rs600010	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs602688	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs61161659	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs620686	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs62075056	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62077463	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62077464	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs632202	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs634365	0.89[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap]
rs644173	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs649180	0.88[CHB][hapmap]
rs650106	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6503500	0.88[CHB][hapmap];0.90[CHD][hapmap]
rs6503502	0.83[EUR][1000 genomes]
rs6503503	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6503504	0.81[CHB][hapmap]
rs6503506	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6503507	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6503513	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]
rs6503515	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6503517	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6503518	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs667239	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs676882	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs68178216	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7208252	0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs7208274	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7208487	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs7208714	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7210488	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7212621	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs7212715	0.83[AFR][1000 genomes]
rs7216086	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7218074	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7218484	0.82[EUR][1000 genomes]
rs7218670	0.83[EUR][1000 genomes]
rs7219014	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7219294	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7220650	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs7221875	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7222252	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs7223331	0.82[EUR][1000 genomes]
rs7223438	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7223896	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7225096	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73293051	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7359658	0.82[EUR][1000 genomes]
rs7405667	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7405770	0.81[EUR][1000 genomes]
rs7406928	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7501488	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7503069	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs7503377	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs7503514	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7503705	1.00[ASW][hapmap];0.95[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs801418	0.88[CHB][hapmap]
rs801426	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap]
rs801427	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs8065879	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8065963	1.00[ASW][hapmap];0.95[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];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8066704	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs8067511	0.83[ASN][1000 genomes]
rs8067884	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8069074	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs8069451	0.94[ASW][hapmap];0.90[CEU][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs8070695	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs8072351	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8074276	0.81[ASN][1000 genomes]
rs8074855	0.84[ASN][1000 genomes]
rs8076494	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8076546	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8077104	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8079303	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8079560	0.83[EUR][1000 genomes]
rs8081033	0.83[EUR][1000 genomes]
rs8081780	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9646419	0.82[CHB][hapmap];0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs9892055	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs9892675	0.86[ASN][1000 genomes]
rs9893735	0.88[CHB][hapmap];0.90[CHD][hapmap]
rs9894500	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9894586	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs9894864	0.82[EUR][1000 genomes]
rs9896913	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9898170	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9898773	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9901219	0.86[ASN][1000 genomes]
rs9903363	0.83[EUR][1000 genomes]
rs9904334	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs9904919	0.95[CEU][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9905432	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9905617	0.83[EUR][1000 genomes]
rs9906612	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs9908131	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs9908760	0.82[EUR][1000 genomes]
rs9909064	0.83[EUR][1000 genomes]
rs9915323	0.84[CEU][hapmap]
rs9944411	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][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	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
9	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
10	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
11	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
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11657899	CCL4	cis	cerebellum	SCAN
rs11657899	PNMT	cis	parietal	SCAN
rs11657899	NEUROD2	cis	parietal	SCAN
rs11657899	PIGW	cis	parietal	SCAN
rs11657899	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs11657899	SLFN14	cis	parietal	SCAN
rs11657899	DHRS11	cis	cerebellum	SCAN
rs11657899	PGAP3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37619600-37627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37619800-37627200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:37619800-37649200	Weak transcription	Esophagus	oesophagus
4	chr17:37620200-37627200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:37620400-37627400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:37620400-37650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:37620800-37627200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:37621000-37627000	Weak transcription	HSMMtube	muscle
9	chr17:37621000-37627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:37621000-37627200	Weak transcription	Right Ventricle	heart
11	chr17:37621000-37627600	Weak transcription	Colonic Mucosa	Colon
12	chr17:37621200-37627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:37621200-37627000	Weak transcription	Brain Substantia Nigra	brain
14	chr17:37621200-37627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:37621200-37627200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:37621200-37627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:37621200-37627200	Weak transcription	Aorta	Aorta
18	chr17:37621200-37627200	Weak transcription	Gastric	stomach
19	chr17:37621200-37627200	Weak transcription	Psoas Muscle	Psoas
20	chr17:37621400-37630400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:37621600-37627200	Weak transcription	Thymus	Thymus
22	chr17:37621800-37627000	Weak transcription	NHLF	lung
23	chr17:37622000-37627000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr17:37622000-37627000	Weak transcription	Left Ventricle	heart
25	chr17:37622000-37627200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:37622000-37627200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:37622000-37627200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:37622000-37627200	Weak transcription	Lung	lung
29	chr17:37622000-37627200	Weak transcription	Ovary	ovary
30	chr17:37622000-37627200	Weak transcription	Pancreas	Pancrea
31	chr17:37622000-37627200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:37622000-37627200	Weak transcription	Small Intestine	intestine
33	chr17:37622000-37627200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:37622200-37627000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:37622200-37627000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:37622200-37627200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr17:37622200-37633400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr17:37622200-37647000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr17:37622400-37627000	Weak transcription	Brain Angular Gyrus	brain
40	chr17:37622400-37627000	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:37622400-37627000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:37622400-37627200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:37622400-37627200	Weak transcription	Brain Germinal Matrix	brain
44	chr17:37622400-37627200	Weak transcription	Fetal Brain Female	brain
45	chr17:37622400-37627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:37622400-37627200	Weak transcription	Spleen	Spleen
47	chr17:37622800-37627000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:37623000-37632800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr17:37623000-37641000	Strong transcription	Fetal Thymus	thymus
50	chr17:37623400-37632800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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