Variant report

Variant	rs12117794
Chromosome Location	chr1:169851369-169851370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169847146..169850317-chr1:169850331..169854277,4	K562	blood:
2	chr1:169844723..169846344-chr1:169851165..169854109,2	K562	blood:
3	chr1:169847953..169852057-chr1:169858381..169863040,5	MCF-7	breast:

Extended variants
information (count: 309 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:301)

rs_ID	r²[population]
rs1046058	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10489173	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10489174	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10489176	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10494479	0.82[AMR][1000 genomes]
rs10800489	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10919253	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12116524	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12116601	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116650	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12118080	0.82[AMR][1000 genomes]
rs12118305	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12118431	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12118559	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12118739	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12119299	0.82[AMR][1000 genomes]
rs12119368	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12119386	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12119447	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12119473	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12119635	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12119665	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12120114	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12120229	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12120727	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12121045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121113	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12121371	0.90[AMR][1000 genomes]
rs12121381	0.90[AMR][1000 genomes]
rs12121443	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12121451	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12121614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121797	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12122419	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12122606	0.90[AMR][1000 genomes]
rs12122720	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12122767	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12122885	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12123432	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12123483	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12123686	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12123806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12123835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12123865	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12124032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124384	0.90[AMR][1000 genomes]
rs12124561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12124750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12124775	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12124907	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12125023	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12125595	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12125679	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12126591	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12127120	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12127174	0.90[AMR][1000 genomes]
rs12127211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12127500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127911	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12128126	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12128308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12128929	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12129052	0.87[EUR][1000 genomes]
rs12129164	0.90[AMR][1000 genomes]
rs12129951	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12130150	0.90[AMR][1000 genomes]
rs12130263	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12130372	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12130417	0.90[AMR][1000 genomes]
rs12130472	0.90[AMR][1000 genomes]
rs12130561	0.90[AMR][1000 genomes]
rs12131192	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12131206	0.82[AMR][1000 genomes]
rs12131357	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131444	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12131603	0.82[AMR][1000 genomes]
rs12132173	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12132222	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12132384	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12132633	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12132892	0.90[AMR][1000 genomes]
rs12133074	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12133108	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12133115	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12133172	0.90[AMR][1000 genomes]
rs12133369	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12133849	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12134837	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12134886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12135057	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12135355	0.90[AMR][1000 genomes]
rs12135361	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12135436	0.90[AMR][1000 genomes]
rs12135559	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12135642	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12135726	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12136425	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12136554	0.82[AMR][1000 genomes]
rs12137279	0.90[AMR][1000 genomes]
rs12137423	0.90[AMR][1000 genomes]
rs12137487	0.90[AMR][1000 genomes]
rs12137873	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12138083	0.90[AMR][1000 genomes]
rs12138861	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12139141	0.82[AMR][1000 genomes]
rs12139629	0.90[AMR][1000 genomes]
rs12140134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12140656	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12140984	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12141317	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12141377	0.82[AMR][1000 genomes]
rs12141428	0.90[AMR][1000 genomes]
rs12141572	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12141613	0.90[AMR][1000 genomes]
rs12141680	0.90[AMR][1000 genomes]
rs12142093	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12142355	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12142459	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12142511	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12142959	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12142961	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12143057	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12143161	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12143204	0.90[AMR][1000 genomes]
rs12143260	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12143301	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12143739	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143781	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12144122	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12144204	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12144207	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12144599	0.90[AMR][1000 genomes]
rs12144624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145295	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12145417	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145458	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145562	0.90[AMR][1000 genomes]
rs12145574	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145614	0.82[AMR][1000 genomes]
rs12145705	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12146043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321657	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1496	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16828222	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16862751	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17345663	0.82[AMR][1000 genomes]
rs17349733	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17349740	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17529304	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17529791	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17543370	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17543611	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17543730	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17544586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17544823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593862	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17601414	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17601582	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17601631	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17602051	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17602072	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17602610	1.00[AFR][1000 genomes]
rs17602701	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17603570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17603666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057249	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2093050	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2145046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2183418	0.82[AMR][1000 genomes]
rs2272919	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2272920	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2272921	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2421109	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2421110	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2474698	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2474701	0.82[AMR][1000 genomes]
rs2474704	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2474705	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2474706	0.82[AMR][1000 genomes]
rs2750018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2750019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806392	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28652825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3766135	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3766141	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3766143	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3766152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272481	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41304562	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4385776	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs476485	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs478116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs483103	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs486431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs490469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs490776	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs495092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs495642	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs505336	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs506196	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs510681	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs511443	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs511609	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs517649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs518928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs520990	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs521165	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs522017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs536080	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs536358	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs536834	0.90[AMR][1000 genomes]
rs537976	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs541711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs544008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs545954	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs545963	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs549537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs553209	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs554060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs557475	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs558540	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs558782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs559969	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs560414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs562054	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs562837	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs565397	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs565626	0.81[EUR][1000 genomes]
rs571806	0.83[EUR][1000 genomes]
rs575147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs576225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs578916	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57952001	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs579553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs582900	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs583604	0.90[AMR][1000 genomes]
rs590181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs591202	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs591559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs593406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs595984	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs598763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs601355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs602556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs606047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs606409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs606695	0.85[AMR][1000 genomes]
rs607707	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs612548	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs615485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs615915	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs616789	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs618149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs629408	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs629421	0.86[AMR][1000 genomes]
rs629593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs630179	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs638486	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs642352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs644834	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs646730	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs647113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs648502	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs654664	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs655133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs655474	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs656334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs656848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs657254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs659363	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs661516	0.86[AMR][1000 genomes]
rs664598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs664962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6681685	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs671921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs672843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs673280	0.83[ASN][1000 genomes]
rs673656	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs673789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs674896	0.85[EUR][1000 genomes]
rs675394	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs676020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs677630	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs680269	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs685155	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs686519	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs686911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs687195	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7411424	0.90[AMR][1000 genomes]
rs74122419	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs850771	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9426888	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9645328	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9645329	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs12117794	METTL18	cis	Esophagus Mucosa	GTEx
rs12117794	METTL18	cis	lung	GTEx
rs12117794	METTL18	cis	Thyroid	GTEx
rs12117794	METTL18	cis	Artery Aorta	GTEx
rs12117794	METTL18	cis	Muscle Skeletal	GTEx
rs12117794	METTL18	cis	Stomach	GTEx
rs12117794	METTL18	cis	Heart Left Ventricle	GTEx
rs12117794	METTL18	cis	Esophagus Muscularis	GTEx
rs12117794	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs12117794	METTL18	cis	Nerve Tibial	GTEx
rs12117794	METTL18	cis	Artery Tibial	GTEx
rs12117794	METTL18	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169786200-169862400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:169806600-169860000	Weak transcription	Stomach Mucosa	stomach
3	chr1:169833800-169860200	Weak transcription	HMEC	breast
4	chr1:169842200-169857400	Weak transcription	Fetal Brain Male	brain
5	chr1:169842400-169855600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:169842400-169860000	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:169842600-169854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:169843600-169855000	Weak transcription	NHEK	skin
9	chr1:169844000-169860000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:169844400-169857400	Weak transcription	K562	blood
11	chr1:169844800-169854600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:169844800-169855400	Weak transcription	Hela-S3	cervix
13	chr1:169844800-169856000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:169844800-169860600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:169845000-169854000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:169845200-169853800	Weak transcription	Fetal Kidney	kidney
17	chr1:169845200-169854400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:169845200-169855000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:169845200-169857200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:169845200-169857200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:169845200-169857400	Weak transcription	HUVEC	blood vessel
22	chr1:169845200-169861400	Weak transcription	Right Ventricle	heart
23	chr1:169845200-169861400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:169845400-169853400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:169845400-169859600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:169845400-169860000	Weak transcription	Psoas Muscle	Psoas
27	chr1:169845400-169861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:169845600-169855000	Weak transcription	Fetal Brain Female	brain
29	chr1:169845800-169855600	Weak transcription	A549	lung
30	chr1:169846000-169854600	Weak transcription	HSMMtube	muscle
31	chr1:169846000-169858000	Weak transcription	Small Intestine	intestine
32	chr1:169847000-169852000	Weak transcription	Ovary	ovary
33	chr1:169847000-169859000	Weak transcription	Left Ventricle	heart
34	chr1:169847200-169855600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:169847200-169860000	Weak transcription	Brain Substantia Nigra	brain
36	chr1:169847200-169860000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:169847400-169854600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:169847400-169855000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:169847400-169860000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:169847600-169853600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:169847600-169855000	Weak transcription	NHLF	lung
42	chr1:169847600-169855200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:169847800-169851800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:169847800-169854000	Weak transcription	NHDF-Ad	bronchial
45	chr1:169847800-169854200	Weak transcription	HSMM	muscle
46	chr1:169848000-169854400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:169848000-169855600	Weak transcription	NH-A	brain
48	chr1:169848000-169859000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:169848000-169860000	Weak transcription	HepG2	liver
50	chr1:169848400-169852000	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

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