Variant report

Variant	rs9289471
Chromosome Location	chr3:134230811-134230812
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	SPI1	chr3:134230299-134230871	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134230319..134232956-chr3:134234483..134236729,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249691	TF binding region

Extended variants
information (count: 230 )
Associated
traits (count: 36 )

rSNPs within LD-proxies of this variant (count:224)

rs_ID	r²[population]
rs10804632	0.93[ASN][1000 genomes]
rs10935113	0.88[EUR][1000 genomes]
rs10935120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1138273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11706117	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11708531	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];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11915964	0.91[CEU][hapmap];0.85[TSI][hapmap]
rs11919350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11919458	0.85[ASN][1000 genomes]
rs11927068	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11928499	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12490835	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12492930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12637301	0.87[CEU][hapmap];0.93[JPT][hapmap]
rs12637751	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13059720	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13064209	0.84[CEU][hapmap]
rs13065405	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13065773	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13075117	0.83[CEU][hapmap]
rs13075253	0.84[CEU][hapmap]
rs13076825	0.83[CEU][hapmap]
rs13081177	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13081688	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13084192	0.84[CEU][hapmap]
rs13087875	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13088413	0.81[ASN][1000 genomes]
rs13089566	0.91[CEU][hapmap]
rs13089966	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13096604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13098546	0.84[CEU][hapmap]
rs13316205	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13322305	0.84[ASN][1000 genomes]
rs1357762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357764	0.91[CEU][hapmap]
rs1498718	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1534025	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1534026	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534027	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534028	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1534030	0.83[CEU][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap]
rs17694011	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814336	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1814337	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863911	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1863912	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1863913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1874883	0.94[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1880375	0.87[CEU][hapmap];0.93[JPT][hapmap]
rs1880376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1880377	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1917130	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2056603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2056604	0.84[ASN][1000 genomes]
rs2177601	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2177602	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241556	0.88[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs2293293	0.88[CEU][hapmap];0.93[JPT][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap]
rs2293294	0.87[CEU][hapmap]
rs2370578	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2370641	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370642	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373865	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28409322	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28702610	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2887797	1.00[CEU][hapmap];0.93[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2888670	0.87[CEU][hapmap];0.93[JPT][hapmap]
rs34029813	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35718987	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35933983	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36006513	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3846055	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3846056	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856729	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3932818	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4074521	0.88[CEU][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap]
rs4074522	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs4245903	0.88[CEU][hapmap];0.93[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap]
rs4245905	0.83[CEU][hapmap];0.93[JPT][hapmap]
rs4245907	0.91[CEU][hapmap]
rs4306899	0.82[CEU][hapmap]
rs4309773	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4367113	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4417907	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4435682	0.91[CEU][hapmap]
rs4437193	0.80[CEU][hapmap]
rs4456908	0.93[JPT][hapmap]
rs4498009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4539979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4543053	0.80[CEU][hapmap];0.81[MEX][hapmap]
rs4572812	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4634170	0.84[CEU][hapmap]
rs4955485	0.90[ASN][1000 genomes]
rs4955525	0.88[CEU][hapmap];0.93[JPT][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap]
rs4955526	0.88[CEU][hapmap];0.93[JPT][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap]
rs4955534	0.87[CEU][hapmap];0.93[JPT][hapmap]
rs4955542	0.87[CEU][hapmap];0.91[JPT][hapmap]
rs4955546	0.82[CEU][hapmap];0.93[JPT][hapmap]
rs4955547	0.84[CEU][hapmap]
rs4955555	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4974478	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4974480	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4974481	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4974483	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4974484	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4974493	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55913793	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56899746	0.85[ASN][1000 genomes]
rs62269547	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62269560	0.81[ASN][1000 genomes]
rs6439484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439487	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6439492	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6763088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6763093	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6763188	0.91[CEU][hapmap]
rs6764764	0.84[CEU][hapmap]
rs6765505	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6766818	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6766897	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6768323	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6769885	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6772406	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6772896	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6775611	0.91[CEU][hapmap];0.85[TSI][hapmap]
rs6776203	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779326	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs6782128	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6782563	0.90[ASN][1000 genomes]
rs6785027	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];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787371	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6790338	0.91[CHB][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6790466	0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6793487	0.90[ASN][1000 genomes]
rs6799110	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6799543	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6800862	0.96[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6801596	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6802654	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805388	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6806417	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[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806810	0.88[CEU][hapmap];0.93[JPT][hapmap]
rs7356093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7371896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7372770	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7373874	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7374158	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7374325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7427492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7428326	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7429866	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7430034	0.83[CEU][hapmap];0.93[JPT][hapmap]
rs7432268	0.93[CHB][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7433663	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7433991	0.84[ASN][1000 genomes]
rs7611611	0.84[ASN][1000 genomes]
rs7611828	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7619451	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7623567	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs7626557	0.91[CEU][hapmap];0.93[JPT][hapmap]
rs7627654	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7627726	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7630874	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7637227	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648616	0.92[JPT][hapmap]
rs7648990	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7649910	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7653807	0.91[CEU][hapmap];0.85[TSI][hapmap]
rs9289475	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934093	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9756173	0.84[ASN][1000 genomes]
rs9809344	0.80[CEU][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap]
rs9809619	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];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9813774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9814567	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9815297	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9815894	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9815983	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9819532	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9820150	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9820425	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9824185	0.88[CEU][hapmap];0.93[JPT][hapmap]
rs9826496	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9827987	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9828815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829092	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9832785	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9833753	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834755	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9835204	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];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836401	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs9838119	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs9838467	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs9838834	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9841180	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9841212	1.00[CEU][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs9841371	0.91[CEU][hapmap];0.93[JPT][hapmap]
rs9844537	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9847788	1.00[CEU][hapmap]
rs9848254	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs9850015	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9851441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9854299	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9855013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857242	0.88[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap]
rs9857995	0.88[CEU][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap]
rs9863786	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9864346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9869981	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870262	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9871226	0.83[CEU][hapmap];0.93[JPT][hapmap]
rs9871305	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9876658	1.00[CEU][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs9883753	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884031	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968172	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9985341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:36)

SNP	Gene	Cis/trans	Tissue	Source
rs9289471	ANAPC13	cis	normal skin	skin_eQTL
rs9289471	CEP63	cis	Esophagus Muscularis	GTEx
rs9289471	ANAPC13	cis	cerebellum	SCAN
rs9289471	CEP63	cis	Muscle Skeletal	GTEx
rs9289471	ANAPC13	cis	Esophagus Mucosa	GTEx
rs9289471	ANAPC13	cis	Muscle Skeletal	GTEx
rs9289471	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs9289471	CEP63	cis	Skin Sun Exposed Lower leg	GTEx
rs9289471	CEP63	cis	Esophagus Mucosa	GTEx
rs9289471	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs9289471	ANAPC13	cis	Esophagus Muscularis	GTEx
rs9289471	KY	cis	cerebellum	SCAN
rs9289471	ANAPC13	cis	Whole Blood	GTEx
rs9289471	ANAPC13	cis	multi-tissue	Pritchard
rs9289471	ANAPC13	cis	lung	GTEx
rs9289471	ANAPC13	cis	Thyroid	GTEx
rs9289471	CEP63	cis	parietal	SCAN
rs9289471	ANAPC13	cis	uninvolved skin	skin_eQTL
rs9289471	CEP63	cis	lung	GTEx
rs9289471	CEP63	cis	Nerve Tibial	GTEx
rs9289471	CEP63	cis	multi-tissue	Pritchard
rs9289471	ANAPC13	cis	lesional skin	skin_eQTL
rs9289471	ANAPC13	cis	lymphoblastoid	seeQTL
rs9289471	TXNDC6	cis	cerebellum	SCAN
rs9289471	ANAPC13	cis	Artery Tibial	GTEx
rs9289471	CEP63	cis	Artery Tibial	GTEx
rs9289471	ANAPC13	cis	Nerve Tibial	GTEx
rs9289471	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs9289471	EPHB1	cis	cerebellum	SCAN
rs9289471	ANAPC13	cis	Heart Left Ventricle	GTEx
rs9289471	ANAPC13	cis	Stomach	GTEx
rs9289471	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs9289471	ANAPC13	cis	Artery Aorta	GTEx
rs9289471	ANAPC13	cis	parietal	SCAN
rs9289471	CEP63	cis	lesional skin	skin_eQTL
rs9289471	CEP63	cis	Whole Blood	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134206400-134234600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:134206400-134241200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:134206600-134232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:134206600-134251600	Weak transcription	Colonic Mucosa	Colon
5	chr3:134206800-134236400	Weak transcription	Hela-S3	cervix
6	chr3:134207000-134235400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:134207000-134235800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:134207000-134235800	Weak transcription	A549	lung
9	chr3:134207000-134235800	Weak transcription	HepG2	liver
10	chr3:134207000-134241600	Weak transcription	Psoas Muscle	Psoas
11	chr3:134209000-134232000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:134213800-134246000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:134215800-134242200	Weak transcription	NHEK	skin
14	chr3:134216000-134235800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:134216200-134235800	Weak transcription	HSMMtube	muscle
16	chr3:134216200-134236400	Weak transcription	NH-A	brain
17	chr3:134220200-134232400	Weak transcription	Brain Angular Gyrus	brain
18	chr3:134220400-134232600	Weak transcription	Right Ventricle	heart
19	chr3:134222000-134245800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:134222400-134235800	Weak transcription	NHLF	lung
21	chr3:134223200-134232800	Weak transcription	Brain Anterior Caudate	brain
22	chr3:134223200-134237000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:134223400-134231200	Weak transcription	Brain Substantia Nigra	brain
24	chr3:134223600-134236200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:134223600-134240800	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:134223800-134232800	Strong transcription	Fetal Thymus	thymus
27	chr3:134224200-134234000	Strong transcription	Dnd41	blood
28	chr3:134224400-134231000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:134224400-134237600	Weak transcription	Fetal Brain Female	brain
30	chr3:134224600-134231000	Weak transcription	Gastric	stomach
31	chr3:134224600-134232600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr3:134224600-134232800	Weak transcription	Lung	lung
33	chr3:134224600-134236000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:134224600-134237600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:134224800-134232600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:134224800-134238800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:134224800-134241200	Weak transcription	Brain Germinal Matrix	brain
38	chr3:134224800-134245800	Weak transcription	Pancreas	Pancrea
39	chr3:134225000-134237600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:134225000-134255800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:134225200-134241200	Weak transcription	Fetal Kidney	kidney
42	chr3:134225200-134256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:134225400-134234000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:134225400-134235200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr3:134225800-134233000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:134226000-134231400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:134226000-134234000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:134226200-134232800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:134226400-134231200	Strong transcription	Ovary	ovary
50	chr3:134226400-134232200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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