Variant report

Variant	rs1392487
Chromosome Location	chr16:71760988-71760989
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr16:71760796-71761183	HepG2	liver:	n/a	chr16:71761143-71761155
2	FOXA1	chr16:71760631-71761254	HepG2	liver:	n/a	chr16:71761143-71761155
3	NFIC	chr16:71760450-71761178	GM12878	blood:	n/a	n/a
4	SPI1	chr16:71760920-71761192	GM12891	blood:	n/a	chr16:71761125-71761132
5	FOXA1	chr16:71760936-71761064	T-47D	breast:	n/a	n/a
6	FOXA2	chr16:71760915-71761146	A549	lung:	n/a	n/a
7	POLR2A	chr16:71760823-71761066	MCF-7	breast:	n/a	n/a
8	MTA3	chr16:71760745-71761306	GM12878	blood:	n/a	n/a
9	FOXA1	chr16:71760751-71761254	HepG2	liver:	n/a	chr16:71761143-71761155
10	NFATC1	chr16:71760696-71761121	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:71760046-71761062	U87	brain:	n/a	n/a
12	POLR2A	chr16:71760198-71763288	K562	blood:	n/a	n/a
13	FOXA2	chr16:71760862-71761149	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:71760850-71761239	U87	brain:	n/a	n/a
15	POLR2A	chr16:71760800-71761290	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71756413..71761113-chr16:71764688..71769079,7	K562	blood:
2	chr16:71760087..71762768-chr16:71767472..71770185,3	MCF-7	breast:
3	chr16:71755880..71759578-chr16:71759607..71764621,8	MCF-7	breast:
4	chr16:71756383..71758703-chr16:71759355..71761226,2	MCF-7	breast:
5	chr16:71759512..71761382-chr16:71841160..71843189,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARVELD3-3	chr16:71760878-71761895	ENSG00000260612.1

No data

Variant related genes	Relation type
PHLPP2	TF binding region
ENSG00000040199	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000261513	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10083757	0.82[ASN][1000 genomes]
rs10220961	0.84[ASN][1000 genomes]
rs1035545	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10459804	0.84[EUR][1000 genomes]
rs10459805	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10500559	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1058747	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10775326	0.83[ASN][1000 genomes]
rs11075891	0.83[AMR][1000 genomes]
rs11075892	0.82[AMR][1000 genomes]
rs11075895	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11075900	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11075902	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11539980	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11640725	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11641873	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11643690	0.84[AMR][1000 genomes]
rs11645467	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11646635	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11646748	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11648240	0.92[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs11648674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11859729	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs11862798	0.81[ASW][hapmap];0.92[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs11865683	0.89[ASN][1000 genomes]
rs11866795	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs12051443	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12051449	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12051506	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12149092	0.85[ASN][1000 genomes]
rs12149873	0.82[ASN][1000 genomes]
rs12444484	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12447856	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12448226	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12597065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12598902	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs12920243	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12922859	0.86[ASN][1000 genomes]
rs12923644	0.91[ASN][1000 genomes]
rs12924258	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12925587	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12926987	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12927320	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12928187	0.94[ASN][1000 genomes]
rs12930206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12932850	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12935426	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13332180	0.81[ASW][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap]
rs13380425	0.90[ASN][1000 genomes]
rs1392483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1477386	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs1582589	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs172649	0.83[CEU][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs172650	0.87[CEU][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.87[TSI][hapmap]
rs2010428	0.90[ASN][1000 genomes]
rs2036337	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2036338	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2113222	0.83[AMR][1000 genomes]
rs2270829	0.86[ASN][1000 genomes]
rs2270830	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270831	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270832	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278031	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303224	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2303225	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2334879	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2334883	0.82[AMR][1000 genomes]
rs2334884	0.82[AMR][1000 genomes]
rs2335716	0.91[ASN][1000 genomes]
rs2432520	0.87[CEU][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs2432524	0.92[CEU][hapmap];0.80[GIH][hapmap];0.81[TSI][hapmap]
rs28439683	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28582831	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28636800	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28704189	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34161748	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34401601	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34734042	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34764568	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35173463	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3751817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752681	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3829537	0.92[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs3848389	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3886515	0.90[ASN][1000 genomes]
rs3925658	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4444347	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4538017	0.81[ASW][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap]
rs4788442	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788547	0.83[AMR][1000 genomes]
rs4788549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788551	1.00[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];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788554	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788558	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788567	0.81[ASW][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs4788808	0.85[CHD][hapmap]
rs4788809	0.81[ASW][hapmap];0.92[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs4788812	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs4788814	0.83[AMR][1000 genomes]
rs4788817	0.92[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs4788821	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4788826	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788827	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57997630	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60881203	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62053107	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62053108	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6499532	0.94[ASN][1000 genomes]
rs6499539	0.81[ASN][1000 genomes]
rs7185997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7186859	0.90[ASN][1000 genomes]
rs7187877	0.87[ASN][1000 genomes]
rs7188406	0.82[CHD][hapmap];0.87[GIH][hapmap]
rs7191593	0.87[ASN][1000 genomes]
rs7192956	0.87[ASN][1000 genomes]
rs7196498	0.95[ASN][1000 genomes]
rs7201228	0.87[ASN][1000 genomes]
rs7201754	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];0.88[MKK][hapmap];0.86[YRI][hapmap];0.94[ASN][1000 genomes]
rs7202288	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7203168	0.95[ASN][1000 genomes]
rs7203216	0.95[ASN][1000 genomes]
rs7203231	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap]
rs7206039	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7404381	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8048057	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]
rs8048210	1.00[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];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8051760	0.81[ASN][1000 genomes]
rs8052489	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8052999	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8053070	0.91[ASN][1000 genomes]
rs8060867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8061613	0.87[ASN][1000 genomes]
rs8061970	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs8062441	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8062477	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8063535	0.95[ASN][1000 genomes]
rs8203	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs904763	0.88[CHD][hapmap]
rs918721	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs951453	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs951939	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs979789	0.92[GIH][hapmap];0.89[JPT][hapmap]
rs9921270	1.00[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];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922054	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9923264	0.83[AMR][1000 genomes]
rs9923336	0.83[AMR][1000 genomes]
rs9925069	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9925228	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9927336	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9927437	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9931717	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9932415	0.83[AMR][1000 genomes]
rs9933961	0.83[AMR][1000 genomes]
rs9936903	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9937280	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9939455	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9939471	0.82[AMR][1000 genomes]
rs9939658	0.80[AMR][1000 genomes]
rs9940217	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9940707	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs9940990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[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	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
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1392487	MARVELD3	cis	lymphoblastoid	seeQTL
rs1392487	ZNF23	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71758200-71761000	Weak transcription	Small Intestine	intestine
2	chr16:71758200-71765200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:71758200-71766200	Weak transcription	Gastric	stomach
4	chr16:71758400-71761000	Weak transcription	Aorta	Aorta
5	chr16:71758400-71761800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:71758400-71762000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:71758400-71762600	Enhancers	Liver	Liver
8	chr16:71758400-71762800	Enhancers	Primary B cells from peripheral blood	blood
9	chr16:71758400-71763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:71758400-71763400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:71758400-71763400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:71758400-71763600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:71758400-71763800	Weak transcription	Fetal Stomach	stomach
14	chr16:71758400-71763800	Weak transcription	NHDF-Ad	bronchial
15	chr16:71758400-71764000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:71758400-71764000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr16:71758400-71764000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr16:71758400-71764200	Weak transcription	HSMM	muscle
19	chr16:71758400-71764200	Weak transcription	HSMMtube	muscle
20	chr16:71758400-71764200	Weak transcription	NH-A	brain
21	chr16:71758400-71764400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:71758400-71764400	Weak transcription	Brain Angular Gyrus	brain
23	chr16:71758400-71764400	Weak transcription	Brain Germinal Matrix	brain
24	chr16:71758400-71764400	Weak transcription	Left Ventricle	heart
25	chr16:71758400-71764800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr16:71758400-71765400	Weak transcription	Fetal Brain Female	brain
27	chr16:71758400-71765600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:71758400-71765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:71758400-71765600	Weak transcription	Brain Substantia Nigra	brain
30	chr16:71758400-71765600	Weak transcription	Fetal Brain Male	brain
31	chr16:71758400-71765600	Weak transcription	Fetal Lung	lung
32	chr16:71758400-71765600	Weak transcription	Pancreas	Pancrea
33	chr16:71758400-71765600	Weak transcription	Spleen	Spleen
34	chr16:71758400-71765800	Weak transcription	Right Ventricle	heart
35	chr16:71758400-71766200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:71758400-71766200	Weak transcription	Psoas Muscle	Psoas
37	chr16:71758400-71766400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:71758400-71766400	Weak transcription	Esophagus	oesophagus
39	chr16:71758400-71766400	Weak transcription	Right Atrium	heart
40	chr16:71758400-71771000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:71758600-71762400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:71758600-71762600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:71758600-71763200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:71758600-71763200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr16:71758600-71763400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:71758600-71763600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:71758600-71763600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr16:71758600-71763600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr16:71758600-71763600	Weak transcription	Placenta	Placenta
50	chr16:71758600-71763600	Weak transcription	Osteobl	bone

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