Variant report

Variant	rs6693979
Chromosome Location	chr1:174851936-174851937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174850728..174852861-chr1:174992244..174993998,2	K562	blood:
2	chr1:174851374..174852003-chr1:174952166..174952708,2	MCF-7	breast:
3	chr1:174849949..174852627-chr1:174855691..174858131,3	K562	blood:
4	chr1:174841809..174843919-chr1:174850326..174853218,2	MCF-7	breast:
5	chr1:174844952..174848677-chr1:174850094..174853118,4	K562	blood:
6	chr1:174851054..174854468-chr1:174967106..174970094,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction
ENSG00000120333	Chromatin interaction
ENSG00000152061	Chromatin interaction

Extended variants
information (count: 208 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:207)

rs_ID	r²[population]
rs1012182	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1034462	0.87[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs10494492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs1058741	0.82[GIH][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10798324	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10798327	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];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912828	0.81[EUR][1000 genomes]
rs10912829	0.81[EUR][1000 genomes]
rs10912843	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][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];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912853	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912854	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs10912855	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11800350	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806066	0.89[ASN][1000 genomes]
rs11806996	0.81[EUR][1000 genomes]
rs11809803	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810508	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063093	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065825	0.81[EUR][1000 genomes]
rs12078839	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094876	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1231826	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231827	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231829	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1329281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs149099	0.81[EUR][1000 genomes]
rs1540207	0.81[GIH][hapmap];0.87[MKK][hapmap];0.83[EUR][1000 genomes]
rs1613634	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1618207	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1618408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1622802	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162815	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.82[ASN][1000 genomes]
rs1653630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1653634	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16847335	0.85[EUR][1000 genomes]
rs16847337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs16847624	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17302033	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17302165	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17302367	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1754350	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1754352	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];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1754353	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1754354	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];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1754360	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.82[ASN][1000 genomes]
rs17842156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17842157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs1793292	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793295	0.87[EUR][1000 genomes]
rs1793298	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793305	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];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793307	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1793310	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs1793313	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1793316	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[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];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793318	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793320	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1813136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1883139	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894198	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894199	0.93[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894201	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894680	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1923818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs193082	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs2003378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060158	0.83[EUR][1000 genomes]
rs2146564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs2156853	0.81[MKK][hapmap]
rs2156854	0.88[JPT][hapmap];0.83[MKK][hapmap]
rs2157541	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2157567	0.81[ASN][1000 genomes]
rs2163628	0.89[EUR][1000 genomes]
rs2183202	0.95[CEU][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2568096	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568098	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2760057	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs2760058	0.81[EUR][1000 genomes]
rs2771401	0.85[EUR][1000 genomes]
rs2860725	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2861005	0.86[EUR][1000 genomes]
rs2861006	0.86[EUR][1000 genomes]
rs2981892	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981893	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981896	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987872	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];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987875	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987876	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987880	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3117838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3117843	0.85[EUR][1000 genomes]
rs3118982	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3118988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3118990	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];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs332763	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap]
rs332764	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap]
rs332767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs332768	0.87[EUR][1000 genomes]
rs332772	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs332779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs332781	0.80[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs332782	0.87[EUR][1000 genomes]
rs332784	0.85[CEU][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.81[MKK][hapmap]
rs332786	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs332793	0.85[EUR][1000 genomes]
rs332797	0.83[EUR][1000 genomes]
rs332798	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap]
rs332800	0.80[ASW][hapmap];0.94[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332806	0.81[EUR][1000 genomes]
rs333422	0.86[EUR][1000 genomes]
rs333432	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333436	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333438	0.86[EUR][1000 genomes]
rs333452	0.82[EUR][1000 genomes]
rs333454	0.82[EUR][1000 genomes]
rs333471	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap]
rs36127331	0.84[EUR][1000 genomes]
rs3766697	0.81[ASN][1000 genomes]
rs3862941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs392307	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs395109	0.81[EUR][1000 genomes]
rs398350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs399530	0.86[EUR][1000 genomes]
rs411665	0.83[EUR][1000 genomes]
rs4480415	0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs458242	0.87[EUR][1000 genomes]
rs459078	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.82[ASN][1000 genomes]
rs460878	0.86[EUR][1000 genomes]
rs464540	0.86[EUR][1000 genomes]
rs464635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4651114	0.80[EUR][1000 genomes]
rs4651205	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4651231	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4651235	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs467437	0.87[EUR][1000 genomes]
rs55667039	0.85[EUR][1000 genomes]
rs55688014	0.86[EUR][1000 genomes]
rs55774740	0.81[ASN][1000 genomes]
rs55793234	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55844798	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57289077	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58030712	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60482554	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60811893	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425298	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425300	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425302	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6425303	0.80[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6425304	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6425306	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6667107	0.81[EUR][1000 genomes]
rs6670315	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs6671196	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6671272	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6671782	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6675528	0.80[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes]
rs66836419	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6684229	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6684515	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6686872	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689153	0.81[EUR][1000 genomes]
rs6690754	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696465	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6697561	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs6700953	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67054007	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67133776	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67203477	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67903803	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72715273	0.81[EUR][1000 genomes]
rs72715281	0.85[EUR][1000 genomes]
rs72715292	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715294	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715300	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717608	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717616	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717617	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72717618	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717630	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717637	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717649	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717650	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717653	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717661	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717670	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74128535	0.81[ASN][1000 genomes]
rs7514183	0.81[AMR][1000 genomes]
rs7516353	0.81[EUR][1000 genomes]
rs7516410	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521109	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7531032	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs7543147	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547658	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];0.97[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554767	0.81[ASN][1000 genomes]
rs913686	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];0.97[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs913687	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.82[ASN][1000 genomes]
rs913688	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9425787	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989424	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6693979	RABGAP1L	cis	multi-tissue	Pritchard
rs6693979	MRPS14	cis	parietal	SCAN
rs6693979	RABGAP1L	cis	Esophagus Muscularis	GTEx
rs6693979	TNR	cis	parietal	SCAN
rs6693979	SLC19A2	cis	cerebellum	SCAN
rs6693979	RC3H1	cis	parietal	SCAN
rs6693979	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs6693979	MRPS14	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174844000-174852000	Weak transcription	Left Ventricle	heart
2	chr1:174844000-174855200	Weak transcription	Right Atrium	heart
3	chr1:174844200-174852400	Weak transcription	Adipose Nuclei	Adipose
4	chr1:174844600-174853000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:174844800-174852600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:174844800-174871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:174844800-174874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:174844800-174877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:174845000-174856200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:174845000-174862800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:174845000-174863000	Weak transcription	Primary T cells from cord blood	blood
12	chr1:174845200-174852600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:174845200-174862600	Weak transcription	Liver	Liver
14	chr1:174846200-174861200	Weak transcription	GM12878-XiMat	blood
15	chr1:174846600-174862800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:174846800-174852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:174846800-174852400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:174846800-174852600	Weak transcription	Small Intestine	intestine
19	chr1:174846800-174855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:174846800-174855200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:174846800-174861000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:174846800-174874000	Weak transcription	Ovary	ovary
23	chr1:174847000-174852400	Weak transcription	HSMMtube	muscle
24	chr1:174847000-174855400	Weak transcription	Colonic Mucosa	Colon
25	chr1:174847000-174869200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:174847200-174852600	Weak transcription	Fetal Lung	lung
27	chr1:174847200-174853000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:174847400-174852000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:174847400-174862800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:174847400-174863000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:174847400-174864400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:174847400-174864600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr1:174847400-174864600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:174847600-174852600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:174847600-174852600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:174847600-174874400	Weak transcription	Esophagus	oesophagus
37	chr1:174849200-174858400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:174849200-174864400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:174849600-174864400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:174850000-174852400	Weak transcription	Stomach Mucosa	stomach
41	chr1:174850000-174853000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:174850200-174852200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:174850200-174855400	Weak transcription	Fetal Intestine Large	intestine
44	chr1:174850200-174861200	Weak transcription	Pancreas	Pancrea
45	chr1:174850200-174874800	Weak transcription	Fetal Stomach	stomach
46	chr1:174850400-174852200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:174850400-174852200	Weak transcription	K562	blood
48	chr1:174850400-174856000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:174850400-174869600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:174851200-174852200	Weak transcription	Fetal Intestine Small	intestine

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Variant report

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