Variant report

Variant	rs12141428
Chromosome Location	chr1:170043389-170043390
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	chr1:170042562..170044134-chr1:170053938..170056849,2	K562	blood:

Variant related genes	Relation type
ENSG00000075945	Chromatin interaction

Extended variants
information (count: 251 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:249)

rs_ID	r²[population]
rs10494479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800489	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12116524	0.85[AMR][1000 genomes]
rs12116601	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12117794	0.90[AMR][1000 genomes]
rs12118080	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119368	0.85[AMR][1000 genomes]
rs12119447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119473	0.81[AMR][1000 genomes]
rs12119665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121045	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12121371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121614	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12121797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122419	0.85[AMR][1000 genomes]
rs12122606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123483	0.85[AMR][1000 genomes]
rs12123686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123806	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12123835	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12123865	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124032	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124561	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124750	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125595	1.00[CEU][hapmap]
rs12125679	1.00[CEU][hapmap]
rs12127120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127211	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12127500	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12127911	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128126	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128308	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12129164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129951	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12130150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131192	1.00[CEU][hapmap]
rs12131206	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131357	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12131603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133108	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12133115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133369	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12134837	0.85[AMR][1000 genomes]
rs12134886	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12135355	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135559	0.85[AMR][1000 genomes]
rs12135642	0.85[AMR][1000 genomes]
rs12136425	0.85[AMR][1000 genomes]
rs12136554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139141	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140134	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12140984	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12141317	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs12141377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142093	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs12142355	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12142459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143057	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs12143204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143739	0.82[AMR][1000 genomes]
rs12143781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144122	0.81[EUR][1000 genomes]
rs12144207	0.85[AMR][1000 genomes]
rs12144599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144624	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12144683	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145295	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145458	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs12145562	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146043	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1321657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496	0.85[AMR][1000 genomes]
rs16828222	1.00[CEU][hapmap]
rs16862751	0.90[CEU][hapmap]
rs16862919	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16862956	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16862968	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17345663	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349740	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17543370	0.85[AMR][1000 genomes]
rs17543611	0.85[AMR][1000 genomes]
rs17543730	0.85[AMR][1000 genomes]
rs17544586	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17544823	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17602701	0.85[AMR][1000 genomes]
rs17603570	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17603666	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2057249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093050	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2145046	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2183418	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474697	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474701	0.91[AMR][1000 genomes]
rs2474704	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2474705	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2474706	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2750018	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2750019	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806384	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806385	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806387	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806389	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806390	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806392	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs28652825	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3766152	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4385776	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs476485	0.83[EUR][1000 genomes]
rs478116	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs483103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486431	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs490469	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs490776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495092	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs495642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506196	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510127	0.83[AMR][1000 genomes]
rs510681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517649	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs518928	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs520990	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521165	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522017	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs536080	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536358	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537976	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541711	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs544008	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs545284	0.83[EUR][1000 genomes]
rs545954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549537	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs553209	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs554060	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs557475	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558540	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558782	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs559969	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560414	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs562054	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562837	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565397	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs565626	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs571806	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs575147	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs576225	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs578916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579553	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs582900	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs583604	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590181	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs591202	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs591559	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs593406	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs595984	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598763	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs601355	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs602556	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs606047	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs606409	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs606689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606695	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612548	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs615485	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs615915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618149	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs618692	0.81[CEU][hapmap]
rs629408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs629593	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs630179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642352	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6427231	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs644834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646730	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647113	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs648502	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs654664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655133	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs655474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656334	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs656848	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs657254	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs659363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661516	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664598	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs664962	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs665774	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs671921	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs672843	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs673656	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673789	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs674896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675394	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676020	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs677630	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680269	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685155	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs686519	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs686911	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs687195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7411424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74122419	0.81[EUR][1000 genomes]
rs7549000	0.90[CEU][hapmap];1.00[EUR][1000 genomes]
rs850771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9426888	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs12141428	MGC9084	cis	multi-tissue	Pritchard
rs12141428	METTL18	cis	lung	GTEx
rs12141428	METTL18	cis	Stomach	GTEx
rs12141428	METTL18	cis	Thyroid	GTEx
rs12141428	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs12141428	METTL18	cis	Adipose Subcutaneous	GTEx
rs12141428	METTL18	cis	Esophagus Mucosa	GTEx
rs12141428	C1orf156	cis	lesional skin	skin_eQTL
rs12141428	METTL18	cis	Artery Tibial	GTEx
rs12141428	C1orf156	cis	uninvolved skin	skin_eQTL
rs12141428	METTL18	cis	Heart Left Ventricle	GTEx
rs12141428	METTL18	cis	Nerve Tibial	GTEx
rs12141428	METTL18	cis	Artery Aorta	GTEx
rs12141428	METTL18	cis	Muscle Skeletal	GTEx
rs12141428	METTL18	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170041000-170044200	Active TSS	GM12878-XiMat	blood
2	chr1:170041400-170043400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:170041400-170044200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:170042000-170044200	Active TSS	HMEC	breast
5	chr1:170042000-170044200	Active TSS	K562	blood
6	chr1:170042000-170044400	Active TSS	NHLF	lung
7	chr1:170042000-170044600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:170042200-170043400	Flanking Active TSS	Dnd41	blood
9	chr1:170042200-170044000	Active TSS	Brain Angular Gyrus	brain
10	chr1:170042400-170044200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:170042400-170044200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:170042400-170044200	Active TSS	Fetal Lung	lung
13	chr1:170042400-170044200	Active TSS	NHDF-Ad	bronchial
14	chr1:170042400-170044600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:170042600-170043400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr1:170042600-170043400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr1:170042600-170043600	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr1:170042600-170043600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr1:170042600-170043600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:170042600-170043600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:170042600-170043600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:170042600-170043600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr1:170042600-170044200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:170042600-170044200	Active TSS	Brain Germinal Matrix	brain
25	chr1:170042600-170044200	Active TSS	Stomach Smooth Muscle	stomach
26	chr1:170042600-170044400	Active TSS	Aorta	Aorta
27	chr1:170042600-170044400	Active TSS	Brain Substantia Nigra	brain
28	chr1:170042600-170044400	Active TSS	Fetal Brain Male	brain
29	chr1:170042600-170044400	Active TSS	Fetal Brain Female	brain
30	chr1:170042600-170044400	Active TSS	Fetal Intestine Large	intestine
31	chr1:170042600-170044400	Active TSS	Ovary	ovary
32	chr1:170042600-170044400	Active TSS	Psoas Muscle	Psoas
33	chr1:170042600-170044400	Active TSS	Stomach Mucosa	stomach
34	chr1:170042600-170044400	Active TSS	A549	lung
35	chr1:170042600-170044600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:170042600-170044600	Active TSS	Right Ventricle	heart
37	chr1:170042800-170043400	Flanking Active TSS	HUVEC	blood vessel
38	chr1:170042800-170043600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr1:170042800-170043600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:170042800-170044200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:170042800-170044200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr1:170042800-170044200	Active TSS	Fetal Stomach	stomach
43	chr1:170042800-170044200	Active TSS	NH-A	brain
44	chr1:170042800-170044400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:170042800-170044400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:170042800-170044400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:170042800-170044400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:170042800-170044400	Active TSS	Brain Anterior Caudate	brain
49	chr1:170042800-170044400	Active TSS	Brain Cingulate Gyrus	brain
50	chr1:170042800-170044600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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