Variant report

Variant	rs2288449
Chromosome Location	chr5:112919941-112919942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112919623..112922323-chr5:112924895..112926616,2	MCF-7	breast:

Extended variants
information (count: 196 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:186)

rs_ID	r²[population]
rs10036298	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10036300	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10038632	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10039853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10040203	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10040430	0.85[ASN][1000 genomes]
rs10040516	0.82[ASN][1000 genomes]
rs10042563	0.81[ASN][1000 genomes]
rs10043066	0.81[ASN][1000 genomes]
rs10046057	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10052077	0.82[ASN][1000 genomes]
rs10053582	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10061552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10063008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10065616	0.82[ASN][1000 genomes]
rs10071816	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10072547	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10076131	0.84[ASN][1000 genomes]
rs10079603	0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10079758	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10079895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10079973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10080096	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1017209	0.84[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs1035888	0.90[ASN][1000 genomes]
rs10477495	0.84[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10477497	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10477498	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10477499	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10477500	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs10478126	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10478127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10478129	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10478132	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1052896	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1080858	0.82[ASN][1000 genomes]
rs11241210	0.86[ASN][1000 genomes]
rs11241211	0.86[ASN][1000 genomes]
rs11241212	0.86[ASN][1000 genomes]
rs11241214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241215	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11742968	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11747924	1.00[CEU][hapmap]
rs11748794	0.94[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs11749931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11956399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12186798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12514105	0.89[ASN][1000 genomes]
rs12516911	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12519323	0.94[CEU][hapmap]
rs12523145	0.93[CHB][hapmap];0.91[CHD][hapmap]
rs12652172	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12654189	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12660001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13359625	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13359648	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13359652	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13359703	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13362066	0.84[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1549628	0.90[ASN][1000 genomes]
rs17135753	0.94[CEU][hapmap]
rs17135754	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs17135766	0.89[ASN][1000 genomes]
rs17135776	0.89[ASN][1000 genomes]
rs1820059	0.86[ASN][1000 genomes]
rs1833678	0.94[CEU][hapmap]
rs1833680	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1833681	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1862315	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1970798	0.86[ASN][1000 genomes]
rs2042222	0.94[CEU][hapmap]
rs2115216	0.82[ASN][1000 genomes]
rs2162842	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2162847	0.82[ASN][1000 genomes]
rs2416319	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28558374	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28848005	0.86[ASN][1000 genomes]
rs2900072	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34514665	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34864074	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35162738	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35526509	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3763138	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.89[ASN][1000 genomes]
rs3763140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3815911	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][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];0.99[ASN][1000 genomes]
rs3842917	0.84[CEU][hapmap];0.90[JPT][hapmap]
rs3846722	0.94[CEU][hapmap]
rs3906371	0.84[JPT][hapmap]
rs3906538	0.87[ASN][1000 genomes]
rs3909887	0.86[ASN][1000 genomes]
rs3936061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4122547	0.81[ASN][1000 genomes]
rs4132093	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4132094	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4334877	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4588592	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705551	0.94[CEU][hapmap]
rs4705552	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4705553	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4705555	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705556	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4705557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs4705558	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs4705821	0.91[JPT][hapmap];0.86[MEX][hapmap]
rs4705823	0.83[CEU][hapmap]
rs4705825	0.84[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[ASN][1000 genomes]
rs4705826	0.94[CEU][hapmap]
rs4705827	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4705828	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4705832	0.90[ASN][1000 genomes]
rs4705833	0.84[ASN][1000 genomes]
rs56030143	0.86[ASN][1000 genomes]
rs56206672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57077871	0.82[EUR][1000 genomes]
rs57134656	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58044020	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58391392	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60265545	0.87[ASN][1000 genomes]
rs60871281	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60914066	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6594721	0.83[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[ASN][1000 genomes]
rs6594729	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6594732	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6594733	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6594734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6594735	0.93[CHB][hapmap];0.91[CHD][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes]
rs6594738	0.89[ASN][1000 genomes]
rs67915940	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6864369	0.94[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs6865809	0.84[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6867502	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6876448	0.84[ASN][1000 genomes]
rs6877432	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6877466	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6877834	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6878001	0.94[CEU][hapmap]
rs6878282	0.85[ASN][1000 genomes]
rs6878355	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6878900	0.86[ASN][1000 genomes]
rs6880447	0.83[ASN][1000 genomes]
rs6883383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6883441	0.94[CEU][hapmap]
rs6883557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6884704	0.82[CEU][hapmap]
rs6886199	0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes]
rs6886628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6887816	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6889501	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6889574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6889783	0.86[ASN][1000 genomes]
rs6898425	0.88[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72805422	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7349799	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs754573	0.84[ASN][1000 genomes]
rs7701913	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7704170	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7705562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7706215	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7706958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7707443	0.94[CEU][hapmap]
rs7707895	0.87[ASN][1000 genomes]
rs7709110	0.80[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs7711078	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7711211	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7711367	0.94[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];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7713038	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7713451	0.89[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7713846	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7715601	0.89[ASN][1000 genomes]
rs7717644	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7722918	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7723108	0.88[ASN][1000 genomes]
rs7729306	0.89[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7730532	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7730557	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7730801	0.91[JPT][hapmap]
rs7730949	0.89[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs7732310	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7737023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs919304	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs929774	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9326893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9326897	0.82[ASN][1000 genomes]
rs957777	0.94[CEU][hapmap]
rs9654519	0.86[ASN][1000 genomes]
rs9885245	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv3433551	chr5:112915953-112919951	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	esv3367549	chr5:112916403-112920101	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2288449	SNORA13	cis	parietal	SCAN
rs2288449	CDO1	cis	cerebellum	SCAN
rs2288449	YTHDC2	Cis_1M	lymphoblastoid	RTeQTL
rs2288449	YTHDC2	cis	parietal	SCAN
rs2288449	YTHDC2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
2	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:112898200-112921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:112899400-112929400	Weak transcription	HepG2	liver
7	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
8	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112910600-112920000	Weak transcription	Brain Anterior Caudate	brain
11	chr5:112910600-112927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:112910600-112927600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:112910600-112927800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
16	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
18	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
19	chr5:112910800-112920000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:112910800-112924400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:112910800-112927600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:112910800-112928400	Weak transcription	A549	lung
23	chr5:112910800-112928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:112910800-112929200	Weak transcription	Right Ventricle	heart
25	chr5:112910800-112929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:112910800-112930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
29	chr5:112910800-112934600	Weak transcription	Gastric	stomach
30	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
31	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
32	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
33	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:112911000-112930000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:112911200-112925400	Weak transcription	Brain Germinal Matrix	brain
37	chr5:112911200-112929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:112913800-112920800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr5:112914000-112922200	Strong transcription	Dnd41	blood
40	chr5:112915200-112922200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:112915200-112922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:112915200-112922200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr5:112915400-112921400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:112915600-112920600	Strong transcription	Primary B cells from cord blood	blood
45	chr5:112916000-112931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:112916200-112920000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:112916200-112920000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:112916400-112920000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:112916400-112920000	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:112916400-112920000	Weak transcription	Ovary	ovary

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