Variant report

Variant	rs686519
Chromosome Location	chr1:169915541-169915542
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169906887..169908799-chr1:169914040..169915551,2	MCF-7	breast:
2	chr1:169913226..169915577-chr1:169917390..169920061,2	MCF-7	breast:
3	chr1:169863023..169865011-chr1:169913232..169916470,3	MCF-7	breast:
4	chr1:169894940..169897093-chr1:169912669..169915603,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 333 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:313)

rs_ID	r²[population]
rs1046058	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10489173	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10489174	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10489176	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs10494479	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10800489	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919253	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12116524	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12116601	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12116650	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12117794	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12118080	0.80[EUR][1000 genomes]
rs12118305	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12118431	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12118559	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12118739	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs12119299	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12119368	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12119386	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12119447	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12119635	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12119665	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12120114	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12120229	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12120727	0.84[EUR][1000 genomes]
rs12121045	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12121113	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12121371	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs12121381	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12121443	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12121451	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12121606	0.82[CEU][hapmap]
rs12121614	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12121681	0.83[CEU][hapmap]
rs12121797	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12122419	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12122606	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12122720	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12122767	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12122776	0.83[CEU][hapmap]
rs12122781	0.83[CEU][hapmap]
rs12122885	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12123432	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12123483	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12123686	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12123806	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123835	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123865	0.88[EUR][1000 genomes]
rs12124032	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12124384	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12124561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124775	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12124907	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12125023	0.83[CEU][hapmap]
rs12125595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126591	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12127120	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12127174	0.85[EUR][1000 genomes]
rs12127211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127500	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12127911	0.88[EUR][1000 genomes]
rs12128126	0.88[EUR][1000 genomes]
rs12128308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128695	0.83[CEU][hapmap]
rs12128704	0.83[CEU][hapmap]
rs12128929	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12129052	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12129443	0.83[CEU][hapmap]
rs12129951	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130150	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12130263	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130417	0.83[EUR][1000 genomes]
rs12130561	0.83[EUR][1000 genomes]
rs12131192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131357	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12131444	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12131603	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12132173	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12132222	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12132384	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12132633	0.83[CEU][hapmap]
rs12132892	0.83[EUR][1000 genomes]
rs12133074	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12133108	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133115	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12133172	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12133369	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133849	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134837	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12134886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135057	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12135355	0.85[EUR][1000 genomes]
rs12135361	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12135436	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12135559	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12135642	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12135726	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12136425	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12136554	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12137279	0.83[EUR][1000 genomes]
rs12137423	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12137487	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12137873	0.83[EUR][1000 genomes]
rs12138083	0.83[EUR][1000 genomes]
rs12138861	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12139141	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12139629	0.83[EUR][1000 genomes]
rs12140134	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140656	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12140984	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141317	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12141377	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12141428	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12141572	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12141613	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12141680	0.83[EUR][1000 genomes]
rs12142093	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12142355	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142459	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12142511	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12142959	0.83[EUR][1000 genomes]
rs12142961	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12143057	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12143161	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12143204	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12143260	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs12143301	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12143739	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12143781	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12144122	0.88[EUR][1000 genomes]
rs12144204	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12144207	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12144599	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12144624	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12144683	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12145295	0.88[EUR][1000 genomes]
rs12145417	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12145458	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12145562	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12145574	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12145614	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12145705	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12146043	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1321657	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1496	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16828222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862751	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862843	1.00[YRI][hapmap]
rs16862850	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs16862862	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs16862919	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16862956	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16862968	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17345663	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17349733	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17349740	0.88[EUR][1000 genomes]
rs17529304	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17529791	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17543370	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17543611	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17543730	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17544586	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17544823	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17593568	0.83[CEU][hapmap]
rs17601414	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17601582	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17601631	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17602051	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17602072	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17602701	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17603570	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17603666	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2057249	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2093050	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145046	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183418	0.83[EUR][1000 genomes]
rs2272919	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2272920	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2272921	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2421109	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2421110	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2474697	0.83[EUR][1000 genomes]
rs2474698	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2474704	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2474705	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2750018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2750019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806385	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806390	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28652825	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766135	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3766141	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3766143	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3766152	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41272481	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41304562	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4385776	0.88[EUR][1000 genomes]
rs4519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476485	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483103	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs486431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490776	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs495092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495642	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs505336	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs506196	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs510681	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs511443	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs511609	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs517649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518928	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520990	0.88[EUR][1000 genomes]
rs521165	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs522017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs536080	0.90[EUR][1000 genomes]
rs536358	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs536834	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs537976	0.90[EUR][1000 genomes]
rs541711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545954	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs545963	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs549537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553209	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557475	0.88[EUR][1000 genomes]
rs558540	0.88[EUR][1000 genomes]
rs558782	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559969	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs560414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562054	0.88[EUR][1000 genomes]
rs562837	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs571806	0.90[EUR][1000 genomes]
rs575147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576225	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578916	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57952001	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583604	0.87[EUR][1000 genomes]
rs590181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591202	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591559	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595984	0.90[EUR][1000 genomes]
rs598763	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606047	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606409	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606689	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs606695	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs607707	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs612548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs615485	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615915	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs616789	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs618149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618692	0.83[CEU][hapmap]
rs629408	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs629421	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs629593	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630179	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs638486	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs642352	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427231	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs644834	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs646730	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs647113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648502	0.93[EUR][1000 genomes]
rs654664	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs655133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655474	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs656334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659363	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs661516	0.85[EUR][1000 genomes]
rs664598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665774	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6681685	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671921	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673280	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673656	0.90[EUR][1000 genomes]
rs673789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674896	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs675394	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs676020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677630	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs680269	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs685155	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];1.00[ASN][1000 genomes]
rs686911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687195	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7411424	0.83[EUR][1000 genomes]
rs74122419	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7548073	0.92[AFR][1000 genomes]
rs7549000	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs850771	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9426888	0.88[EUR][1000 genomes]
rs9645328	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9645329	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
3	nsv1007190	chr1:169890542-169929582	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv997360	chr1:169892284-169946436	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1015110	chr1:169892661-169929582	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1013271	chr1:169892661-169960549	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010007	chr1:169895282-169946436	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1003588	chr1:169895984-169946436	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv998382	chr1:169899427-169929582	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1011978	chr1:169899427-169946436	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv997289	chr1:169899427-169960549	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1012520	chr1:169899427-169969444	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1003803	chr1:169901733-169929582	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1001670	chr1:169901733-169956450	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1004999	chr1:169901733-169960549	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1009843	chr1:169903077-169950341	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1012222	chr1:169903862-169950341	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1006673	chr1:169913597-169946436	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv1005982	chr1:169913597-169958219	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1001013	chr1:169913597-169960549	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs686519	METTL18	cis	Esophagus Muscularis	GTEx
rs686519	MGC9084	cis	multi-tissue	Pritchard
rs686519	METTL18	cis	Adipose Subcutaneous	GTEx
rs686519	METTL18	cis	Thyroid	GTEx
rs686519	METTL18	cis	lung	GTEx
rs686519	METTL18	cis	Stomach	GTEx
rs686519	C1orf156	cis	uninvolved skin	skin_eQTL
rs686519	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs686519	METTL18	cis	Heart Left Ventricle	GTEx
rs686519	METTL18	cis	Artery Tibial	GTEx
rs686519	METTL18	cis	Muscle Skeletal	GTEx
rs686519	METTL18	cis	Esophagus Mucosa	GTEx
rs686519	C1orf156	cis	lesional skin	skin_eQTL
rs686519	METTL18	cis	Artery Aorta	GTEx
rs686519	METTL18	cis	Nerve Tibial	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:169886600-169915600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:169904000-169929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:169904000-169934800	Weak transcription	Fetal Heart	heart
5	chr1:169904000-169949800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
7	chr1:169909200-169946000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:169910400-169946200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:169911200-169948800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169911400-169923000	Weak transcription	Liver	Liver
11	chr1:169911400-169946200	Weak transcription	Dnd41	blood
12	chr1:169911400-169948600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:169911600-169918400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:169911600-169927000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:169911600-169945800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:169911800-169946400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:169911800-169949600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:169911800-169951200	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:169911800-169968400	Weak transcription	Psoas Muscle	Psoas
20	chr1:169912000-169918600	Weak transcription	NHLF	lung
21	chr1:169912000-169922400	Weak transcription	HSMM	muscle
22	chr1:169912000-169946200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:169912000-169953600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:169912000-169966000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:169912000-169968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:169912400-169918000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:169912400-169918200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:169912400-169950400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:169912600-169918800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:169912800-169967200	Weak transcription	NHDF-Ad	bronchial
31	chr1:169913400-169953600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:169913600-169915600	Weak transcription	Pancreas	Pancrea
33	chr1:169913800-169916000	Enhancers	Hela-S3	cervix
34	chr1:169913800-169917000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:169913800-169938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:169913800-169968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:169914000-169915800	Weak transcription	Thymus	Thymus
38	chr1:169914000-169920800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:169914000-169945800	Weak transcription	Adipose Nuclei	Adipose
40	chr1:169914000-169946200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:169914000-169968400	Weak transcription	Ovary	ovary
42	chr1:169914200-169915800	Weak transcription	Fetal Brain Female	brain
43	chr1:169914200-169916400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:169914200-169921200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:169914200-169923000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:169914200-169945800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:169914600-169915600	Weak transcription	Lung	lung
48	chr1:169914600-169916200	Weak transcription	Spleen	Spleen
49	chr1:169914600-169923800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:169914600-169923800	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links