Variant report

Variant	rs6703547
Chromosome Location	chr1:173907812-173907813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173792379..173794780-chr1:173904886..173907947,3	K562	blood:
2	chr1:173904113..173906664-chr1:173907580..173910408,3	K562	blood:
3	chr1:173906434..173908742-chr1:173914028..173915858,2	K562	blood:
4	chr1:173898854..173900882-chr1:173905926..173908293,2	MCF-7	breast:
5	chr1:173793063..173794780-chr1:173905333..173907947,2	K562	blood:

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10127823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs10494491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798302	0.84[MEX][hapmap]
rs10912702	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912710	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10912717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10912721	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11489771	0.85[EUR][1000 genomes]
rs12029025	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12058585	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12060191	0.86[EUR][1000 genomes]
rs12060331	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12060401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12063266	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063818	0.86[EUR][1000 genomes]
rs12067580	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069129	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12071784	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12072602	1.00[CEU][hapmap];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];0.90[ASN][1000 genomes]
rs12072905	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12077782	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12077812	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12083593	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12085939	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12086019	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12086826	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];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12087212	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12089005	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12089405	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];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12093885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12562588	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];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12562959	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12563156	0.87[EUR][1000 genomes]
rs12565352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12565973	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12566022	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566122	0.82[JPT][hapmap]
rs12566642	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12566651	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.93[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];0.96[ASN][1000 genomes]
rs12566842	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1321637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1322776	0.80[EUR][1000 genomes]
rs1322778	0.81[EUR][1000 genomes]
rs1322779	0.85[EUR][1000 genomes]
rs13375205	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1407596	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];0.96[ASN][1000 genomes]
rs1407597	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];0.98[ASN][1000 genomes]
rs16828467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16846641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16846667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs1987871	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1987872	0.80[ASN][1000 genomes]
rs1987873	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2009083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2025241	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2227588	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2227590	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227593	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227594	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227595	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227596	0.81[ASN][1000 genomes]
rs2227597	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227601	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2227612	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes]
rs2295958	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28595073	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2860841	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.93[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];0.93[ASN][1000 genomes]
rs2860845	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2901784	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36013663	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3980286	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4536054	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4652283	0.92[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs4652298	0.92[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs4652328	0.92[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs56926540	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57849055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57995528	0.86[EUR][1000 genomes]
rs58092103	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59520434	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59960208	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60265316	0.84[EUR][1000 genomes]
rs60551050	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826771	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826774	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826777	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826779	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826780	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826784	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826785	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61826823	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61826824	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61826826	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826829	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826831	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61827928	0.81[EUR][1000 genomes]
rs61827930	0.81[EUR][1000 genomes]
rs61827932	0.81[EUR][1000 genomes]
rs61827933	0.81[EUR][1000 genomes]
rs61827934	0.84[EUR][1000 genomes]
rs61827935	0.81[EUR][1000 genomes]
rs61827936	0.85[EUR][1000 genomes]
rs61827938	0.88[EUR][1000 genomes]
rs61827956	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61827957	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61827959	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828895	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828898	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828899	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828900	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828901	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425262	0.86[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];0.91[MEX][hapmap];0.93[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];0.98[ASN][1000 genomes]
rs6425264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6425266	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425267	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6425271	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425272	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6657380	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6661182	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];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6665720	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6665880	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];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6668543	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6676307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6677660	0.84[MEX][hapmap]
rs6680088	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683276	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6688176	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6689285	0.84[MEX][hapmap]
rs6695887	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];0.91[MEX][hapmap];0.93[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];0.98[ASN][1000 genomes]
rs6695940	0.92[EUR][1000 genomes]
rs6698123	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]
rs6702454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs677	0.84[EUR][1000 genomes]
rs724416	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];0.96[ASN][1000 genomes]
rs73039035	0.87[EUR][1000 genomes]
rs7523504	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];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7528380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7530661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7547880	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.93[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];0.94[ASN][1000 genomes]
rs7549291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs767053	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9283385	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9286896	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9425431	0.92[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs9425433	0.92[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs9425434	0.86[EUR][1000 genomes]
rs9425436	0.88[EUR][1000 genomes]
rs9425762	0.86[EUR][1000 genomes]
rs9425772	0.82[ASN][1000 genomes]
rs9425773	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9425775	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9425779	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9425780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs961148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs965498	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9728376	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
3	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv3407396	chr1:173896346-173917122	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6703547	SERPINC1	cis	Esophagus Mucosa	GTEx
rs6703547	SERPINC1	cis	Esophagus Muscularis	GTEx
rs6703547	SERPINC1	cis	lung	GTEx
rs6703547	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173871200-173908400	Weak transcription	Spleen	Spleen
2	chr1:173882800-173912400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:173893400-173908400	Weak transcription	Colonic Mucosa	Colon
4	chr1:173894600-173914400	Weak transcription	Right Ventricle	heart
5	chr1:173895200-173912200	Weak transcription	Stomach Mucosa	stomach
6	chr1:173896400-173910000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:173896400-173914400	Weak transcription	Pancreas	Pancrea
8	chr1:173896800-173908400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:173897000-173908400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:173898000-173915200	Weak transcription	Aorta	Aorta
11	chr1:173898200-173908800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:173898200-173910000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:173898200-173910200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:173898200-173912200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:173898800-173912200	Weak transcription	NHEK	skin
16	chr1:173899200-173913800	Weak transcription	Fetal Heart	heart
17	chr1:173899400-173917400	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:173899400-173927200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:173899400-173929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:173899600-173923200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:173899800-173953800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:173900000-173911000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:173900000-173929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:173900000-173958600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:173900000-173962400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:173900000-173966600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:173900000-173968200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:173900200-173912400	Weak transcription	Fetal Brain Male	brain
29	chr1:173900200-173966400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:173900400-173964600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:173900800-173963800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:173901200-173931400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:173901400-173962200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:173901600-173912800	Strong transcription	HSMM	muscle
35	chr1:173901600-173966400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:173901600-173966400	Strong transcription	Dnd41	blood
37	chr1:173901800-173908000	Weak transcription	Psoas Muscle	Psoas
38	chr1:173901800-173909000	Weak transcription	NHLF	lung
39	chr1:173902200-173921200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:173902200-173928200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:173902200-173954600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:173902600-173954400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:173903200-173925000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:173903200-173925600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:173903400-173915600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:173903400-173917400	Strong transcription	HUVEC	blood vessel
47	chr1:173903400-173927000	Strong transcription	Fetal Muscle Leg	muscle
48	chr1:173903400-173927000	Strong transcription	Fetal Thymus	thymus
49	chr1:173903800-173912600	Weak transcription	Brain Angular Gyrus	brain
50	chr1:173904000-173929200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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