Variant report

Variant	rs2278860
Chromosome Location	chr15:43659046-43659047
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	chr15:43658990-43659111	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43641400..43644347-chr15:43658323..43660227,2	K562	blood:
2	chr15:43632397..43634657-chr15:43658728..43661211,2	K562	blood:
3	chr15:43621397..43624186-chr15:43658342..43659938,2	K562	blood:
4	chr15:43646115..43650025-chr15:43654953..43659195,5	K562	blood:

Variant related genes	Relation type
TUBGCP4	TF binding region
ENSG00000168803	Chromatin interaction
ENSG00000168806	Chromatin interaction

Extended variants
information (count: 184 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs101094	0.81[AMR][1000 genomes]
rs1095386	0.87[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070399	1.00[ASN][1000 genomes]
rs1123947	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1133395	1.00[ASN][1000 genomes]
rs11637572	0.86[CHB][hapmap]
rs11858152	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11858640	0.84[AMR][1000 genomes]
rs12101673	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12102205	1.00[ASN][1000 genomes]
rs12148735	0.87[ASN][1000 genomes]
rs12323999	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12324572	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324584	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12905772	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1549523	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549525	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957627	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957630	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957632	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814538	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes]
rs1837959	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1837960	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2012467	0.90[ASN][1000 genomes]
rs2242068	0.84[ASN][1000 genomes]
rs2242069	0.89[GIH][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.81[AMR][1000 genomes]
rs2243434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2244746	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2245054	0.84[AMR][1000 genomes]
rs2245176	0.84[AMR][1000 genomes]
rs2245664	0.87[AMR][1000 genomes]
rs2245715	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs2245780	0.84[AMR][1000 genomes]
rs2245785	0.83[AMR][1000 genomes]
rs2245790	0.84[AMR][1000 genomes]
rs2245908	0.87[AMR][1000 genomes]
rs2251538	0.83[AMR][1000 genomes]
rs2253708	1.00[CEU][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2254321	0.89[AMR][1000 genomes]
rs2254325	0.89[AMR][1000 genomes]
rs2255383	0.84[AMR][1000 genomes]
rs2255440	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs2256764	0.83[AMR][1000 genomes]
rs2264049	0.83[AMR][1000 genomes]
rs2264239	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2264876	0.88[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes]
rs2278856	1.00[ASN][1000 genomes]
rs2278857	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2278859	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412778	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412779	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412780	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412781	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2412782	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2439831	1.00[CEU][hapmap];0.94[GIH][hapmap];0.86[LWK][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2439832	0.85[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap]
rs2439836	0.83[AMR][1000 genomes]
rs2439841	0.89[AMR][1000 genomes]
rs2439848	0.84[AMR][1000 genomes]
rs2439850	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs2444028	0.87[AMR][1000 genomes]
rs2444029	0.87[AMR][1000 genomes]
rs2444032	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes]
rs2444036	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2444247	0.87[AMR][1000 genomes]
rs2444249	0.84[AMR][1000 genomes]
rs2444250	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs2467733	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2467736	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes]
rs2467739	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes]
rs2467740	0.84[AMR][1000 genomes]
rs2467743	0.84[AMR][1000 genomes]
rs2467746	0.83[AMR][1000 genomes]
rs2584694	0.82[AMR][1000 genomes]
rs2584700	0.83[ASN][1000 genomes]
rs2584701	0.92[ASN][1000 genomes]
rs2584702	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2584703	0.87[ASN][1000 genomes]
rs2584706	0.83[AMR][1000 genomes]
rs2584726	0.87[AMR][1000 genomes]
rs28415933	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28461955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28653441	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28666488	0.84[AMR][1000 genomes]
rs28702649	1.00[ASN][1000 genomes]
rs28729853	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28758627	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2899082	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213990	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213991	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742969	0.93[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742971	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809481	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3809482	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4075674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296223	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4401024	0.99[ASN][1000 genomes]
rs4547312	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs45585139	0.83[AMR][1000 genomes]
rs4583210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471229	0.87[AMR][1000 genomes]
rs478028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs478104	0.88[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs483724	0.86[AMR][1000 genomes]
rs484029	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs484846	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs485148	0.82[ASN][1000 genomes]
rs488756	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[MKK][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs491800	0.84[ASN][1000 genomes]
rs495175	1.00[CEU][hapmap]
rs496584	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs498837	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs499035	0.92[ASN][1000 genomes]
rs507178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs510108	0.92[ASN][1000 genomes]
rs511673	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512628	0.99[ASN][1000 genomes]
rs524527	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs526083	0.81[AMR][1000 genomes]
rs526450	0.88[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs527921	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap]
rs528517	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs537115	0.88[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes]
rs538238	0.86[CHD][hapmap]
rs540031	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544122	1.00[CEU][hapmap]
rs550239	0.87[AMR][1000 genomes]
rs552701	0.97[ASN][1000 genomes]
rs558656	0.89[AMR][1000 genomes]
rs561863	0.83[AMR][1000 genomes]
rs565007	0.87[AMR][1000 genomes]
rs573615	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs576557	0.88[ASN][1000 genomes]
rs6493081	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493082	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493083	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6493084	1.00[ASN][1000 genomes]
rs6493085	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493086	1.00[ASN][1000 genomes]
rs6493087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493088	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs689596	0.83[AMR][1000 genomes]
rs689616	0.83[AMR][1000 genomes]
rs689647	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes]
rs689754	1.00[CEU][hapmap]
rs689781	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap]
rs689826	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs689835	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs690002	0.84[AMR][1000 genomes]
rs690038	0.89[AMR][1000 genomes]
rs690263	0.87[AMR][1000 genomes]
rs690316	1.00[CEU][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes]
rs690436	1.00[CEU][hapmap];0.94[GIH][hapmap];0.86[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs690466	0.81[AMR][1000 genomes]
rs694985	1.00[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs7163245	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7163288	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs7165471	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7166812	1.00[ASN][1000 genomes]
rs7167882	0.92[ASN][1000 genomes]
rs7168940	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7169790	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7170152	0.93[ASN][1000 genomes]
rs7170489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172374	0.93[ASN][1000 genomes]
rs7173487	1.00[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs7175434	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7176849	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.92[ASN][1000 genomes]
rs8033714	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8039638	0.88[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8041132	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042688	1.00[ASN][1000 genomes]
rs825739	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs825740	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs884704	0.88[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.96[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs933941	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935901	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs956391	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9920879	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs999026	0.90[ASN][1000 genomes]
rs999047	0.94[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1512	chr15:43616834-43661646	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs2278860	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2278860	ADAL	cis	Adipose Subcutaneous	GTEx
rs2278860	ELL3	cis	lymphoblastoid	seeQTL
rs2278860	TGM5	cis	Lymphoblastoid	GTEx
rs2278860	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs2278860	TGM5	cis	multi-tissue	Pritchard
rs2278860	ADAL	cis	Thyroid	GTEx
rs2278860	ADAL	cis	Esophagus Muscularis	GTEx
rs2278860	ADAL	cis	multi-tissue	Pritchard
rs2278860	ADAL	cis	Artery Tibial	GTEx
rs2278860	ADAL	cis	Nerve Tibial	GTEx
rs2278860	TGM5	cis	lymphoblastoid	seeQTL
rs2278860	ADAL	cis	Stomach	GTEx
rs2278860	ADAL	cis	lung	GTEx
rs2278860	LOC440278	cis	multi-tissue	Pritchard
rs2278860	ADAL	cis	Artery Aorta	GTEx
rs2278860	CATSPER2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43649800-43660000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr15:43649800-43660200	ZNF genes & repeats	Fetal Muscle Leg	muscle
3	chr15:43650200-43659800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:43650200-43660400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr15:43650200-43661600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:43650600-43661400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:43650800-43659800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:43650800-43660200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:43651000-43659800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr15:43651000-43660000	ZNF genes & repeats	Fetal Lung	lung
11	chr15:43651000-43660200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr15:43651000-43660400	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr15:43654000-43660000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:43654000-43660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:43654000-43660200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:43654000-43661200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:43654000-43661200	Strong transcription	Placenta	Placenta
18	chr15:43654200-43659200	Strong transcription	HSMMtube	muscle
19	chr15:43654200-43659800	Strong transcription	Brain Cingulate Gyrus	brain
20	chr15:43654200-43659800	Strong transcription	Rectal Smooth Muscle	rectum
21	chr15:43654400-43662000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr15:43654600-43659600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:43654600-43659800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr15:43654600-43661800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:43654800-43659800	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:43654800-43661000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:43654800-43661000	Weak transcription	Stomach Mucosa	stomach
28	chr15:43654800-43661200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr15:43654800-43661400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:43654800-43661800	Strong transcription	HSMM	muscle
31	chr15:43655000-43659600	Strong transcription	A549	lung
32	chr15:43655000-43660000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:43655000-43660400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr15:43655200-43659600	Strong transcription	Colon Smooth Muscle	Colon
35	chr15:43655200-43659800	ZNF genes & repeats	Fetal Stomach	stomach
36	chr15:43655200-43661000	Strong transcription	K562	blood
37	chr15:43655200-43661400	Strong transcription	NHDF-Ad	bronchial
38	chr15:43655400-43660000	Strong transcription	Fetal Intestine Large	intestine
39	chr15:43655600-43659200	Strong transcription	Brain Germinal Matrix	brain
40	chr15:43655800-43661000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:43656000-43659200	Weak transcription	Fetal Heart	heart
42	chr15:43656000-43659400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:43656000-43660600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:43656000-43660600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr15:43656000-43661400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:43656000-43661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr15:43656200-43660000	Strong transcription	NH-A	brain
48	chr15:43656200-43661600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:43656400-43659800	Strong transcription	Osteobl	bone
50	chr15:43656400-43660000	Strong transcription	H9 Cell Line	embryonic stem cell

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