Variant report

Variant	rs12947620
Chromosome Location	chr17:37605364-37605365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37556967..37560024-chr17:37605171..37608348,4	K562	blood:
2	chr17:37557413..37559525-chr17:37605171..37609188,5	K562	blood:
3	chr17:37604386..37611889-chr17:37616048..37620931,25	K562	blood:
4	chr17:37605291..37610010-chr17:37614517..37620203,14	MCF-7	breast:
5	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:
6	chr17:37604291..37611614-chr17:37614953..37621274,26	K562	blood:

Variant related genes	Relation type
ENSG00000266469	Chromatin interaction
ENSG00000167258	Chromatin interaction
ENSG00000108306	Chromatin interaction

Extended variants
information (count: 266 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs10221223	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10445305	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10445306	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10445307	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10491128	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10491129	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10775391	0.82[ASN][1000 genomes]
rs1077715	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11078897	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs11078898	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11078900	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078901	0.95[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078902	0.84[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078903	0.84[CEU][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078904	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11078905	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078906	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078907	0.94[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078910	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11078911	0.84[ASN][1000 genomes]
rs11078912	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11078913	0.84[ASN][1000 genomes]
rs11650081	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11650146	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11651089	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11654018	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs11657899	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]
rs11658678	0.85[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs11659010	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11867312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868029	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868030	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868133	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11869109	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11869259	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11869323	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11870631	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12150047	0.90[CHD][hapmap];0.86[ASN][1000 genomes]
rs12150493	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12449852	0.85[CHD][hapmap];0.85[ASN][1000 genomes]
rs12450559	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs12451586	0.83[AMR][1000 genomes]
rs12452509	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12452682	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12452880	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12453397	0.80[AMR][1000 genomes]
rs12600625	0.90[ASN][1000 genomes]
rs12600751	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12936646	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12936996	0.94[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12937703	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12938099	0.86[ASN][1000 genomes]
rs12938268	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12939831	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12942352	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12942360	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12943928	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12947281	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12947506	0.87[CHD][hapmap]
rs12947600	0.84[AFR][1000 genomes]
rs12948560	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12948906	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12950666	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12952384	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13341996	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1966915	0.81[EUR][1000 genomes]
rs1966916	0.81[EUR][1000 genomes]
rs2018026	0.86[ASN][1000 genomes]
rs2024073	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2061338	0.83[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs2168785	0.81[EUR][1000 genomes]
rs2302073	0.82[CHB][hapmap]
rs2303316	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs2338755	0.83[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs2338797	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2338798	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2338799	0.81[CHB][hapmap]
rs2338800	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2338801	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs33933929	0.81[EUR][1000 genomes]
rs34363096	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34432983	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34597616	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34627893	0.82[EUR][1000 genomes]
rs34957982	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35112839	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35285898	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35497503	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35546703	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35667594	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36064019	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744348	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs3889368	0.82[ASN][1000 genomes]
rs3964723	0.81[EUR][1000 genomes]
rs4239222	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs4286140	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4325601	0.81[EUR][1000 genomes]
rs4390625	1.00[ASW][hapmap];0.89[CEU][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4410117	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462633	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4511574	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4516267	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs4794807	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4794809	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4794810	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794813	0.84[ASN][1000 genomes]
rs4794814	0.94[ASW][hapmap];0.89[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];0.95[YRI][hapmap]
rs4795355	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs4795356	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4795357	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4795358	0.83[ASN][1000 genomes]
rs4795359	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4795361	0.86[EUR][1000 genomes]
rs4795362	0.85[EUR][1000 genomes]
rs4795364	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4795367	0.86[ASN][1000 genomes]
rs4795369	0.88[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4795371	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4795376	0.84[ASN][1000 genomes]
rs4795377	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4795379	0.90[CHD][hapmap]
rs55660616	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55689507	0.81[EUR][1000 genomes]
rs55722796	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57399933	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57448077	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs582176	0.82[CHB][hapmap]
rs583980	0.83[EUR][1000 genomes]
rs585961	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs587343	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs588193	0.83[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs590051	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs593480	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs597069	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs600010	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs602282	0.81[EUR][1000 genomes]
rs602688	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61161659	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs612209	0.82[EUR][1000 genomes]
rs620686	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62075056	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62077463	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62077464	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs632202	0.85[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[ASN][1000 genomes]
rs634365	0.83[ASW][hapmap];0.89[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs638201	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs644173	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs649180	0.82[CHB][hapmap]
rs650106	0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6503500	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs6503502	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6503503	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6503504	0.81[CHB][hapmap]
rs6503506	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6503507	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6503513	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]
rs6503515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503517	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6503518	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs667239	0.90[CHD][hapmap]
rs676882	0.87[CHD][hapmap]
rs677888	0.81[ASN][1000 genomes]
rs679995	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68178216	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs683948	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7208252	0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs7208274	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7208487	0.87[CHD][hapmap]
rs7208714	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7210488	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7212621	0.87[CHD][hapmap]
rs7212715	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7212868	0.84[AFR][1000 genomes]
rs7216086	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs7218074	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7218484	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7218670	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7219014	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7219294	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7220650	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7221875	0.84[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7222252	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs7223331	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7223438	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7223896	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7225096	0.94[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73293051	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7359658	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7405667	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7406928	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7501488	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7503069	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs7503377	0.87[CHD][hapmap]
rs7503514	0.84[ASN][1000 genomes]
rs7503705	0.94[ASW][hapmap];0.89[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];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs752314	0.83[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs755500	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs801418	0.82[CHB][hapmap]
rs801419	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs801420	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs801426	0.83[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs801427	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs8065879	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8065963	0.94[ASW][hapmap];0.89[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];0.95[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8066704	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8067302	0.86[ASN][1000 genomes]
rs8067511	0.86[ASN][1000 genomes]
rs8067884	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8067948	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8068427	0.85[ASN][1000 genomes]
rs8069074	0.90[CHD][hapmap]
rs8069451	0.88[ASW][hapmap];0.84[CEU][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs8070695	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8072297	0.83[ASN][1000 genomes]
rs8072351	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8073907	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs8074276	0.84[ASN][1000 genomes]
rs8074855	0.86[ASN][1000 genomes]
rs8076494	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8076546	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8077104	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8079303	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8079560	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8079590	0.83[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs8079662	0.81[EUR][1000 genomes]
rs8081033	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8081220	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8081338	0.81[EUR][1000 genomes]
rs8081780	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9646419	0.90[CHD][hapmap];0.86[ASN][1000 genomes]
rs9747342	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9747983	0.80[ASN][1000 genomes]
rs9892055	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9892675	0.92[ASN][1000 genomes]
rs9893735	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs9894500	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9894586	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9894864	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9896913	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9898170	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9898773	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9901219	0.93[ASN][1000 genomes]
rs9903363	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9904334	0.83[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9904919	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9905432	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9905617	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9906612	0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs9908131	0.87[CHD][hapmap]
rs9908760	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9909064	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9913320	0.82[EUR][1000 genomes]
rs9916302	0.83[ASN][1000 genomes]
rs9944411	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes];0.86[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	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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12947620	CCL4	cis	cerebellum	SCAN
rs12947620	NEUROD2	cis	parietal	SCAN
rs12947620	PNMT	cis	parietal	SCAN
rs12947620	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs12947620	PIGW	cis	parietal	SCAN
rs12947620	PGAP3	cis	cerebellum	SCAN
rs12947620	SLFN14	cis	parietal	SCAN
rs12947620	PGAP3	cis	Heart Left Ventricle	GTEx
rs12947620	DHRS11	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37559000-37606600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:37560800-37605400	Strong transcription	Fetal Thymus	thymus
3	chr17:37560800-37605600	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr17:37561000-37605400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:37561600-37605600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:37563800-37605600	Strong transcription	Fetal Stomach	stomach
7	chr17:37563800-37606000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:37564000-37605400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:37566800-37606400	Weak transcription	Stomach Mucosa	stomach
10	chr17:37571600-37606600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:37579400-37605600	Strong transcription	Fetal Intestine Large	intestine
12	chr17:37584200-37606600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr17:37588200-37606400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:37589800-37605400	Strong transcription	Fetal Brain Female	brain
15	chr17:37590800-37606600	Weak transcription	Fetal Heart	heart
16	chr17:37593800-37606600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:37594800-37606200	Weak transcription	Small Intestine	intestine
18	chr17:37595000-37605400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:37597200-37606200	Strong transcription	Fetal Intestine Small	intestine
20	chr17:37597600-37606400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr17:37597600-37606400	Weak transcription	Fetal Kidney	kidney
22	chr17:37598000-37606400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr17:37598000-37606400	Weak transcription	HMEC	breast
24	chr17:37598200-37606400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr17:37598400-37606400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr17:37598400-37606600	Weak transcription	Psoas Muscle	Psoas
27	chr17:37598600-37606400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:37598800-37606600	Weak transcription	Aorta	Aorta
29	chr17:37599200-37605600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:37599400-37606800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:37600200-37606400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:37600200-37606400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr17:37600400-37606200	Weak transcription	Fetal Brain Male	brain
34	chr17:37600400-37606400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr17:37601000-37606400	Weak transcription	Left Ventricle	heart
36	chr17:37601200-37606400	Weak transcription	Primary B cells from cord blood	blood
37	chr17:37601400-37606400	Weak transcription	Colon Smooth Muscle	Colon
38	chr17:37602200-37606400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr17:37602200-37606400	Weak transcription	NHLF	lung
40	chr17:37603200-37605600	Strong transcription	Brain Substantia Nigra	brain
41	chr17:37603200-37606600	Weak transcription	Colonic Mucosa	Colon
42	chr17:37603200-37606800	Weak transcription	Pancreas	Pancrea
43	chr17:37603400-37606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr17:37603400-37606400	Weak transcription	Right Ventricle	heart
45	chr17:37603400-37606600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:37603400-37606600	Weak transcription	HSMMtube	muscle
47	chr17:37603600-37606200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:37603600-37606400	Weak transcription	Thymus	Thymus
49	chr17:37604000-37605800	Genic enhancers	HepG2	liver
50	chr17:37604000-37606400	Weak transcription	Duodenum Mucosa	Duodenum

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