Variant report

Variant	rs8048057
Chromosome Location	chr16:71717384-71717385
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	CTCF	chr16:71717158-71717428	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71711063..71712806-chr16:71716837..71718394,2	MCF-7	breast:
2	chr16:71716071..71718546-chr16:71755995..71758627,2	MCF-7	breast:

Variant related genes	Relation type
PHLPP2	TF binding region
ENSG00000040199	Chromatin interaction
ENSG00000261513	Chromatin interaction

Extended variants
information (count: 164 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10220961	0.81[ASN][1000 genomes]
rs1035545	0.86[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10500559	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1058747	1.00[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10775326	0.87[ASN][1000 genomes]
rs11075891	0.88[AMR][1000 genomes]
rs11075892	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11075895	0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs11075900	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075902	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11539980	0.93[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11641873	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11643690	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11645467	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11646635	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11646748	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11648240	0.92[CEU][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11648674	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11859729	0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs11862798	0.92[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes]
rs11865683	0.93[ASN][1000 genomes]
rs11866795	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs12051443	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12051449	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12051506	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12149092	0.81[ASN][1000 genomes]
rs12444484	1.00[CEU][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12447856	0.86[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12448226	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12597065	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12598902	0.96[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs12920243	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12922859	0.82[ASN][1000 genomes]
rs12923644	0.95[ASN][1000 genomes]
rs12924258	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12925587	0.85[EUR][1000 genomes]
rs12926987	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12927320	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12928187	0.88[ASN][1000 genomes]
rs12930206	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12932850	0.93[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12935426	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13380425	0.95[ASN][1000 genomes]
rs1392483	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1392487	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1477386	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs1582589	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs172649	0.83[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs172650	0.87[CEU][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.87[TSI][hapmap]
rs2010428	0.85[ASN][1000 genomes]
rs2032920	0.85[AMR][1000 genomes]
rs2036337	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2036338	0.86[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2113222	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2270829	0.82[ASN][1000 genomes]
rs2270830	0.81[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2270831	0.86[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2270832	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278031	0.86[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303224	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2303225	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2334879	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2334883	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2334884	0.87[AMR][1000 genomes]
rs2335716	0.95[ASN][1000 genomes]
rs2432520	0.87[CEU][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs2432524	0.92[CEU][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap]
rs28439683	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28582831	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28636800	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28704189	0.85[EUR][1000 genomes]
rs34161748	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34401601	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34734042	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34764568	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35173463	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3751817	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752681	0.86[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3829537	0.92[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs3886515	0.95[ASN][1000 genomes]
rs3925658	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4444347	0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4538017	0.88[MEX][hapmap];0.91[TSI][hapmap]
rs4788442	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4788544	0.80[AMR][1000 genomes]
rs4788546	0.81[AMR][1000 genomes]
rs4788547	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4788549	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4788551	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788552	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788554	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788558	0.81[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4788567	0.83[MEX][hapmap];0.91[TSI][hapmap]
rs4788808	0.85[CHD][hapmap]
rs4788809	0.92[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes]
rs4788812	0.92[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4788814	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4788817	0.92[CEU][hapmap];0.83[CHD][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes]
rs4788821	0.93[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57997630	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60881203	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62053077	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62053078	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62053107	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62053108	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6499532	0.90[ASN][1000 genomes]
rs7185997	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7186717	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7186859	0.87[ASN][1000 genomes]
rs7187877	0.90[ASN][1000 genomes]
rs7188406	0.82[CHD][hapmap];0.89[GIH][hapmap]
rs7191593	0.91[ASN][1000 genomes]
rs7192956	0.83[ASN][1000 genomes]
rs7196498	0.89[ASN][1000 genomes]
rs7201228	0.81[ASN][1000 genomes]
rs7201754	0.92[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap];0.90[ASN][1000 genomes]
rs7202288	0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7203168	0.89[ASN][1000 genomes]
rs7203216	0.89[ASN][1000 genomes]
rs7203231	0.92[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap]
rs7206039	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7404381	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8048210	0.93[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]
rs8052489	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052999	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8053070	0.95[ASN][1000 genomes]
rs8060867	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8061613	0.90[ASN][1000 genomes]
rs8061970	0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs8062441	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8062477	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8063535	0.89[ASN][1000 genomes]
rs8203	0.86[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs904763	0.88[CHD][hapmap]
rs918721	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs951453	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs951939	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs979789	0.94[GIH][hapmap];0.89[JPT][hapmap]
rs9921270	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9922054	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9923264	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9923336	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9925069	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9925228	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9927336	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9927437	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9931717	0.84[EUR][1000 genomes]
rs9932415	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9933961	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9936903	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9937280	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9939455	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9939471	0.87[AMR][1000 genomes]
rs9939658	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9940142	0.84[AMR][1000 genomes]
rs9940217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940707	0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9940990	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8048057	MARVELD3	cis	lymphoblastoid	seeQTL
rs8048057	PHLPPL	cis	multi-tissue	Pritchard
rs8048057	ZNF23	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71675000-71724000	Weak transcription	Esophagus	oesophagus
3	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
5	chr16:71685400-71718800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:71687800-71725000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:71690800-71725600	Weak transcription	Fetal Thymus	thymus
11	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:71695000-71725200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:71695000-71726000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:71695200-71719200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:71695200-71724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:71695200-71725200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:71696000-71719000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:71696400-71720000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:71696400-71725200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr16:71697200-71718800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:71701400-71719200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr16:71703800-71718400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:71703800-71723800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr16:71705000-71721200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:71705000-71741600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr16:71705000-71756200	Weak transcription	Colon Smooth Muscle	Colon
28	chr16:71705000-71756800	Weak transcription	Gastric	stomach
29	chr16:71705200-71732200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:71705400-71733000	Weak transcription	Pancreas	Pancrea
31	chr16:71706800-71719400	Strong transcription	HepG2	liver
32	chr16:71707200-71718800	Strong transcription	Osteobl	bone
33	chr16:71707200-71719600	Strong transcription	Fetal Muscle Leg	muscle
34	chr16:71707400-71750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr16:71707800-71723600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:71708400-71720400	Strong transcription	Adipose Nuclei	Adipose
37	chr16:71708600-71718800	Strong transcription	NHDF-Ad	bronchial
38	chr16:71709600-71724000	Weak transcription	Fetal Kidney	kidney
39	chr16:71710400-71718200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:71710400-71735800	Weak transcription	Right Ventricle	heart
41	chr16:71710600-71717400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr16:71710600-71717800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:71710600-71721000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:71710600-71722600	Weak transcription	GM12878-XiMat	blood
45	chr16:71710600-71726600	Weak transcription	Fetal Brain Male	brain
46	chr16:71710600-71732200	Weak transcription	Thymus	Thymus
47	chr16:71710600-71741800	Weak transcription	Spleen	Spleen
48	chr16:71710600-71756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr16:71710600-71756400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr16:71710600-71756800	Weak transcription	Lung	lung

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