Variant report

Variant	rs1321637
Chromosome Location	chr1:173989671-173989672
allele	C/T
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	POLR2A	chr1:173989218-173989675	K562	blood:	n/a	n/a
2	JUN	chr1:173989393-173993122	K562	blood:	n/a	chr1:173991618-173991628 chr1:173991618-173991628 chr1:173991619-173991627 chr1:173991214-173991223 chr1:173991618-173991628 chr1:173991577-173991586 chr1:173991199-173991208 chr1:173991618-173991628
3	ZNF263	chr1:173989473-173992379	HEK293-T-REx	kidney:	n/a	chr1:173991447-173991468 chr1:173990774-173990783

No.	Distal block	Cell Line	Cell type
1	chr1:173831906..173839548-chr1:173987374..173993282,15	MCF-7	breast:
2	chr1:173681767..173684087-chr1:173988933..173990555,2	K562	blood:
3	chr1:171748445..171750403-chr1:173987079..173989780,2	MCF-7	breast:
4	chr1:173831314..173839948-chr1:173984831..173993131,14	MCF-7	breast:
5	chr1:173989061..173991259-chr1:174208907..174211636,3	MCF-7	breast:
6	chr1:173982774..173988202-chr1:173988612..173994506,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224977	TF binding region
RC3H1-IT1	TF binding region
ENSG00000236535	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000185278	Chromatin interaction

Extended variants
information (count: 188 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs10127823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10494491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10912702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10912710	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912716	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10912717	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912721	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11489771	0.80[EUR][1000 genomes]
rs12029025	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12058585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12060191	0.81[EUR][1000 genomes]
rs12060331	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060401	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063266	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12063818	0.81[EUR][1000 genomes]
rs12067580	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12069129	0.86[ASN][1000 genomes]
rs12071784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12072602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12072905	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12077782	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12077812	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12083593	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12085939	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12086019	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12086826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12087212	0.81[EUR][1000 genomes]
rs12089005	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12089405	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];0.97[ASN][1000 genomes]
rs12093885	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12562588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12563156	0.87[EUR][1000 genomes]
rs12564858	0.82[EUR][1000 genomes]
rs12565352	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12565675	0.81[EUR][1000 genomes]
rs12565973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566022	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12566122	0.82[JPT][hapmap]
rs12566642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12566643	0.82[EUR][1000 genomes]
rs12566651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12566842	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12567854	0.81[EUR][1000 genomes]
rs12567864	0.81[EUR][1000 genomes]
rs1322776	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1322778	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1322779	0.80[EUR][1000 genomes]
rs13375205	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407126	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1407596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16828467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16846641	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16846667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16846688	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1890881	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs1987871	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1987872	0.83[ASN][1000 genomes]
rs1987873	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2009083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2015075	0.82[EUR][1000 genomes]
rs2025241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2227588	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2227590	0.88[EUR][1000 genomes]
rs2227593	0.88[EUR][1000 genomes]
rs2227594	0.87[EUR][1000 genomes]
rs2227595	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2227597	0.88[EUR][1000 genomes]
rs2227601	0.86[EUR][1000 genomes]
rs2227612	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2295958	0.85[EUR][1000 genomes]
rs28595073	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2860841	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];0.97[ASN][1000 genomes]
rs2860845	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2901784	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36013663	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3980286	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];0.97[ASN][1000 genomes]
rs41265242	0.81[EUR][1000 genomes]
rs41266044	0.82[EUR][1000 genomes]
rs4140468	0.82[EUR][1000 genomes]
rs4536054	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652283	0.92[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap]
rs4652298	0.92[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs4652328	0.92[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs56926540	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57849055	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57995528	0.81[EUR][1000 genomes]
rs58092103	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59520434	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59960208	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60039606	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60265316	0.83[EUR][1000 genomes]
rs60551050	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61826774	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826777	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61826779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61826780	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826784	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61826785	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826823	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61826826	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61826829	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61826831	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61827889	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61827901	0.82[EUR][1000 genomes]
rs61827902	0.82[EUR][1000 genomes]
rs61827903	0.82[EUR][1000 genomes]
rs61827904	0.84[EUR][1000 genomes]
rs61827905	0.82[EUR][1000 genomes]
rs61827928	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61827930	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61827932	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61827933	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61827934	0.83[EUR][1000 genomes]
rs61827935	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61827936	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61827938	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61827956	0.88[EUR][1000 genomes]
rs61827957	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61827959	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61828571	0.82[EUR][1000 genomes]
rs61828575	0.82[EUR][1000 genomes]
rs61828576	0.82[EUR][1000 genomes]
rs61828577	0.82[EUR][1000 genomes]
rs61828578	0.82[EUR][1000 genomes]
rs61828580	0.82[EUR][1000 genomes]
rs61828583	0.82[EUR][1000 genomes]
rs61828584	0.82[EUR][1000 genomes]
rs61828587	0.82[EUR][1000 genomes]
rs61828589	0.82[EUR][1000 genomes]
rs61828590	0.82[EUR][1000 genomes]
rs61828591	0.82[EUR][1000 genomes]
rs61828895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828900	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425262	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];0.92[ASN][1000 genomes]
rs6425264	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425266	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6425267	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];0.97[ASN][1000 genomes]
rs6425271	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425272	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6657380	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6661182	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];0.97[ASN][1000 genomes]
rs6665720	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6665880	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];0.95[ASN][1000 genomes]
rs6668543	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6676307	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6680088	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6683276	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6688176	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695887	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];0.92[ASN][1000 genomes]
rs6695940	0.87[EUR][1000 genomes]
rs6698123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6702454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6703547	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]
rs677	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs724416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73039035	0.87[EUR][1000 genomes]
rs7523504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7525325	0.85[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs7528380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7530661	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7547880	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];0.95[ASN][1000 genomes]
rs7549291	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs767053	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9283385	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9286896	0.88[EUR][1000 genomes]
rs9425431	0.92[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs9425433	0.92[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs9425434	0.81[EUR][1000 genomes]
rs9425436	0.86[EUR][1000 genomes]
rs9425762	0.81[EUR][1000 genomes]
rs9425773	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9425775	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs9425779	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9425780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs961148	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs965498	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9728376	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1321637	SERPINC1	cis	Thyroid	GTEx
rs1321637	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173962200-173989800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:173962200-173990400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:173962800-173989800	Weak transcription	Placenta	Placenta
4	chr1:173966200-173989800	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:173966400-173989800	Weak transcription	Esophagus	oesophagus
6	chr1:173976600-173990000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:173978800-173990200	Weak transcription	Spleen	Spleen
8	chr1:173981400-173989800	Weak transcription	Pancreas	Pancrea
9	chr1:173985200-173989800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:173986000-173990000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:173986000-173990200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:173986200-173989800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:173986400-173989800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:173986800-173989800	Weak transcription	HSMM	muscle
15	chr1:173987200-173989800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:173987200-173989800	Weak transcription	Left Ventricle	heart
17	chr1:173987400-173989800	Weak transcription	Lung	lung
18	chr1:173987400-173990000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:173987800-173990000	Enhancers	Fetal Heart	heart
20	chr1:173988000-173989800	Weak transcription	Gastric	stomach
21	chr1:173988400-173990400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:173988600-173989800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:173988600-173990000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:173988600-173991800	Active TSS	Stomach Smooth Muscle	stomach
25	chr1:173988600-173992400	Active TSS	Brain Germinal Matrix	brain
26	chr1:173988800-173989800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:173988800-173989800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:173989000-173989800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
29	chr1:173989000-173989800	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr1:173989000-173989800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:173989000-173989800	Transcr. at gene 5' and 3'	K562	blood
32	chr1:173989000-173990600	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr1:173989000-173991000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:173989000-173992200	Active TSS	Psoas Muscle	Psoas
35	chr1:173989200-173989800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:173989200-173989800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:173989200-173989800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:173989200-173989800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:173989200-173990000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:173989200-173990000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr1:173989200-173990400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:173989200-173990600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:173989200-173990600	Flanking Active TSS	HUVEC	blood vessel
44	chr1:173989200-173990800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:173989200-173990800	Flanking Active TSS	Dnd41	blood
46	chr1:173989200-173992000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:173989200-173992200	Active TSS	NHLF	lung
48	chr1:173989200-173992400	Active TSS	Right Atrium	heart
49	chr1:173989400-173989800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:173989400-173989800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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