Variant report

Variant	rs4243111
Chromosome Location	chr16:75320827-75320828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75299703..75301536-chr16:75319943..75321807,2	K562	blood:
2	chr16:75297370..75301171-chr16:75316900..75323378,8	MCF-7	breast:
3	chr16:75281206..75283355-chr16:75320437..75323255,2	MCF-7	breast:
4	chr16:75283944..75286001-chr16:75320233..75321893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 256 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:247)

rs_ID	r²[population]
rs1011121	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431974	0.88[ASN][1000 genomes]
rs10459859	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10514393	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10514396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10781976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10871309	0.91[ASN][1000 genomes]
rs10871311	0.87[ASN][1000 genomes]
rs10871313	0.86[CHB][hapmap]
rs1109341	0.88[ASN][1000 genomes]
rs1109342	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.88[ASN][1000 genomes]
rs11149812	0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs11149813	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs11149814	0.81[ASN][1000 genomes]
rs11149815	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11149818	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11149820	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11149822	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11149824	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11149825	0.88[ASN][1000 genomes]
rs11149828	0.87[ASN][1000 genomes]
rs11149829	0.88[ASN][1000 genomes]
rs11149830	0.86[ASN][1000 genomes]
rs11149831	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11149832	0.96[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap]
rs11640018	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11640218	0.91[ASN][1000 genomes]
rs11640674	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11641308	0.93[ASN][1000 genomes]
rs11641311	0.94[ASN][1000 genomes]
rs11641532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11641801	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11642572	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11642921	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11643410	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11644592	0.88[ASN][1000 genomes]
rs11644639	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11645329	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11645691	0.83[CHB][hapmap]
rs11646044	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11646677	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11646852	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11648176	0.83[ASN][1000 genomes]
rs11858992	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11860231	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11860284	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11862095	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11862582	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11864102	0.88[ASN][1000 genomes]
rs11864587	0.84[ASN][1000 genomes]
rs11865004	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12051111	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12051136	0.88[ASN][1000 genomes]
rs12051326	0.88[ASN][1000 genomes]
rs12149063	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12443834	0.88[ASN][1000 genomes]
rs12443904	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12444589	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12449177	0.81[ASN][1000 genomes]
rs12599361	0.88[ASN][1000 genomes]
rs12917651	0.96[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap]
rs12922951	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12924782	0.87[ASN][1000 genomes]
rs12924920	0.87[ASN][1000 genomes]
rs12928036	0.82[EUR][1000 genomes]
rs12933281	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap]
rs12935787	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1364077	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1364078	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1364079	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1424013	0.86[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.81[JPT][hapmap];0.81[MKK][hapmap]
rs1542864	0.81[EUR][1000 genomes]
rs1544810	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549306	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1559339	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166013	0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs17685540	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17696696	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17696749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1808434	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1808435	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1808436	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1862706	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs1895490	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2059256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2059257	0.83[CHB][hapmap]
rs2113232	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2161648	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2161684	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap]
rs2285222	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2285223	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2285224	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285225	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs247427	0.83[CHB][hapmap]
rs247438	0.83[CHB][hapmap]
rs2865528	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2865530	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2865531	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2903033	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34029337	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34222958	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34296964	0.88[ASN][1000 genomes]
rs34624768	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34673655	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35261357	0.83[ASN][1000 genomes]
rs35263058	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35409574	0.81[ASN][1000 genomes]
rs35415181	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35552529	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35737321	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35937717	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35952313	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3743607	0.91[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs3743609	0.81[EUR][1000 genomes]
rs3784935	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784936	0.83[CHB][hapmap]
rs3851733	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3851734	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs3851737	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3851738	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3851740	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3863442	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3863445	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3863446	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3863447	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4146809	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4146810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4243112	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4558442	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4594277	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4638613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4887813	0.80[ASN][1000 genomes]
rs4887814	0.82[ASN][1000 genomes]
rs4887815	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4887816	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887818	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887820	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4887821	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887822	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4887823	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs4887824	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs4887829	0.96[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap]
rs4888372	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4888374	0.81[ASN][1000 genomes]
rs4888375	0.81[ASN][1000 genomes]
rs4888376	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888377	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4888378	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4888380	0.94[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888383	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888385	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888386	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888387	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888388	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888389	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888390	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888391	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888392	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4888393	0.86[CHB][hapmap]
rs4888396	0.83[CHB][hapmap]
rs4888400	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4888403	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888404	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888405	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888406	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888407	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888408	0.86[ASN][1000 genomes]
rs4888409	0.88[ASN][1000 genomes]
rs4888410	0.88[ASN][1000 genomes]
rs4888411	0.85[ASN][1000 genomes]
rs4888412	0.85[ASN][1000 genomes]
rs4888413	0.85[ASN][1000 genomes]
rs4888414	0.87[ASN][1000 genomes]
rs4888415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4888416	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4888418	0.83[ASN][1000 genomes]
rs4888425	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4888427	0.81[EUR][1000 genomes]
rs4888430	0.84[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap]
rs4888432	0.84[GIH][hapmap]
rs4993969	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4993970	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4993971	0.83[CHB][hapmap]
rs56343285	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57113150	0.82[AFR][1000 genomes]
rs59465235	0.81[EUR][1000 genomes]
rs59686216	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60730309	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62059808	0.90[ASN][1000 genomes]
rs62059845	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62059846	0.84[ASN][1000 genomes]
rs62062564	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62062565	0.88[ASN][1000 genomes]
rs62062567	0.87[ASN][1000 genomes]
rs62062568	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62062572	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6564252	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6564258	0.87[ASN][1000 genomes]
rs6564259	0.83[ASN][1000 genomes]
rs6564261	0.86[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.81[MKK][hapmap]
rs67409275	0.84[EUR][1000 genomes]
rs71394207	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7184525	0.88[ASN][1000 genomes]
rs7185640	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7188231	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7188604	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7189407	0.82[CHB][hapmap]
rs7191890	0.82[EUR][1000 genomes]
rs7194129	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7199062	0.82[EUR][1000 genomes]
rs7199132	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7200616	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7202567	0.81[EUR][1000 genomes]
rs7203157	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7204984	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7206541	0.88[ASN][1000 genomes]
rs7206665	0.82[EUR][1000 genomes]
rs72787160	0.88[ASN][1000 genomes]
rs7499872	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs766521	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs766522	0.83[CHB][hapmap]
rs8046000	0.88[ASN][1000 genomes]
rs8046109	0.81[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8048527	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8048677	0.83[CHB][hapmap]
rs8048816	0.83[CHB][hapmap]
rs8050059	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8050769	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8051407	0.88[ASN][1000 genomes]
rs8054586	0.83[CHB][hapmap]
rs8054769	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8055490	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs8055609	0.82[CHB][hapmap]
rs8055974	0.92[CEU][hapmap];0.91[CHB][hapmap]
rs8056080	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8056236	0.88[ASN][1000 genomes]
rs8057084	0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap]
rs8057203	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8057535	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8057849	0.88[ASN][1000 genomes]
rs8060955	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8182132	0.94[ASN][1000 genomes]
rs889446	0.91[CHB][hapmap]
rs977987	0.86[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.88[LWK][hapmap];0.88[MKK][hapmap]
rs9922008	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs999675	0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
8	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4243111	DHODH	cis	cerebellum	SCAN
rs4243111	CFDP1	Cis_1M	lymphoblastoid	RTeQTL
rs4243111	CFDP1	cis	cerebellum	SCAN
rs4243111	CFDP1	cis	parietal	SCAN
rs4243111	RP11-252K23.2	cis	lung	GTEx
rs4243111	RP11-252K23.2	cis	Thyroid	GTEx
rs4243111	RP11-252K23.2	cis	Esophagus Mucosa	GTEx
rs4243111	BCAR1	cis	Esophagus Mucosa	GTEx
rs4243111	RP11-252K23.2	cis	Artery Tibial	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75301000-75325000	Weak transcription	Liver	Liver
2	chr16:75301800-75321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:75302000-75324000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:75306200-75325000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:75306200-75325200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:75306400-75321600	Weak transcription	Right Atrium	heart
7	chr16:75307600-75321600	Weak transcription	Lung	lung
8	chr16:75307800-75323000	Weak transcription	NHLF	lung
9	chr16:75307800-75325400	Weak transcription	Osteobl	bone
10	chr16:75311600-75321200	Weak transcription	Spleen	Spleen
11	chr16:75312000-75324400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:75313400-75324600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:75313400-75325200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr16:75313400-75325200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:75313600-75321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:75313600-75321600	Weak transcription	Left Ventricle	heart
17	chr16:75313600-75321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:75313600-75321800	Weak transcription	Gastric	stomach
19	chr16:75313600-75321800	Weak transcription	HUVEC	blood vessel
20	chr16:75313600-75322000	Weak transcription	Fetal Intestine Large	intestine
21	chr16:75313600-75322200	Weak transcription	Adipose Nuclei	Adipose
22	chr16:75313600-75323200	Weak transcription	HepG2	liver
23	chr16:75313600-75323800	Weak transcription	Ovary	ovary
24	chr16:75313600-75325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr16:75313600-75330400	Weak transcription	Pancreas	Pancrea
26	chr16:75313800-75322200	Weak transcription	Right Ventricle	heart
27	chr16:75314000-75322000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr16:75314000-75325000	Weak transcription	Brain Anterior Caudate	brain
29	chr16:75314400-75321600	Weak transcription	Fetal Lung	lung
30	chr16:75314800-75321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:75314800-75321800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:75314800-75325400	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:75315000-75321200	Weak transcription	Placenta	Placenta
34	chr16:75315000-75321800	Weak transcription	HSMM	muscle
35	chr16:75315000-75335600	Weak transcription	Psoas Muscle	Psoas
36	chr16:75315200-75321600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:75315200-75325200	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:75315200-75326600	Weak transcription	Brain Substantia Nigra	brain
39	chr16:75315400-75325400	Weak transcription	Aorta	Aorta
40	chr16:75315800-75322200	Weak transcription	Primary T cells from cord blood	blood
41	chr16:75316600-75323000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:75316800-75321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:75316800-75321800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:75316800-75322200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:75316800-75325000	Weak transcription	Brain Germinal Matrix	brain
46	chr16:75316800-75325200	Weak transcription	Primary B cells from cord blood	blood
47	chr16:75317000-75321000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:75317000-75321200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:75317000-75321400	Weak transcription	NHEK	skin
50	chr16:75317000-75321600	Weak transcription	HMEC	breast

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Variant report

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