Variant report

Variant	rs12144204
Chromosome Location	chr1:169765348-169765349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:169765251-169765646	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:169763165-169766289	K562	blood:	n/a	n/a
3	MXI1	chr1:169763111-169765549	IMR90	lung:	n/a	n/a
4	POLR2A	chr1:169763227-169765745	GM12878	blood:	n/a	n/a
5	HCFC1	chr1:169763085-169765566	Hela-S3	cervix:	n/a	n/a
6	ATF2	chr1:169765317-169766029	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:169763181-169766127	GM12891	blood:	n/a	n/a
8	POLR2A	chr1:169763143-169765402	K562	blood:	n/a	n/a
9	NFIC	chr1:169765313-169766031	GM12878	blood:	n/a	n/a
10	MTA3	chr1:169763206-169765978	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:169765291-169765599	GM12892	blood:	n/a	n/a
12	RUNX3	chr1:169765335-169766097	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:169763312-169765460	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169763994..169765974-chr1:169862962..169865288,2	K562	blood:
2	chr1:169763753..169765531-chr1:169862183..169864517,2	MCF-7	breast:
3	chr1:169679878..169683283-chr1:169762041..169765464,5	MCF-7	breast:
4	chr1:169454326..169457851-chr1:169761976..169765744,3	MCF-7	breast:
5	chr1:169764521..169766056-chr1:169860447..169863119,2	MCF-7	breast:

No data

Variant related genes	Relation type
METTL18	TF binding region
ENSG00000213062	Chromatin interaction
ENSG00000117479	Chromatin interaction
ENSG00000188404	Chromatin interaction
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 268 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:267)

rs_ID	r²[population]
rs1046058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800489	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10919253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12116524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12116601	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12116650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117794	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12118431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119473	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12119635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12120114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120647	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12120727	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12121045	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12121113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121313	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12121443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12121606	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12121614	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12121681	0.87[ASN][1000 genomes]
rs12122419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12122582	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12122767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12122776	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12122781	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12123432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123806	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12123835	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12123942	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12124032	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12124561	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12124750	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12124775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12125023	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12125595	0.89[EUR][1000 genomes]
rs12125679	0.89[EUR][1000 genomes]
rs12126591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12127211	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12127500	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12128308	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12128695	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12128704	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12128929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12129052	0.89[EUR][1000 genomes]
rs12129443	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12129951	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12130263	0.89[EUR][1000 genomes]
rs12130372	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12130784	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12131192	0.89[EUR][1000 genomes]
rs12131357	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12131444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12132222	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12132633	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12132692	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12133074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12133108	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12133369	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12133849	0.86[EUR][1000 genomes]
rs12134837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12134886	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12135057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12135361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12135642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12135726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12136425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12138861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140134	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12140656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140984	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12141317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12142355	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12142511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12143161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12143739	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12144122	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12144207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12144624	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12144683	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12145417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145504	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12145574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146043	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16828207	0.83[AFR][1000 genomes]
rs16828222	0.89[EUR][1000 genomes]
rs16862751	0.89[EUR][1000 genomes]
rs17527744	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17529304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17529791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17543370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17543611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17543730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17544586	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17544823	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17593568	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17593862	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17601414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17601582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17601631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17602051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17602072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17602701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17603570	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17603666	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1800015	0.87[ASN][1000 genomes]
rs1800016	0.87[ASN][1000 genomes]
rs2057249	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2093050	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2145046	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2272919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2272920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2272921	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2474698	0.82[EUR][1000 genomes]
rs2474704	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2474705	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2750018	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2750019	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2806384	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2806385	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2806387	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2806389	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2806390	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2806392	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28652825	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3766135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3766143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3766152	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3917388	0.87[ASN][1000 genomes]
rs3917392	0.87[ASN][1000 genomes]
rs3917396	0.87[ASN][1000 genomes]
rs3917399	0.83[AFR][1000 genomes]
rs3917411	0.87[ASN][1000 genomes]
rs3917417	0.87[ASN][1000 genomes]
rs3917424	0.87[ASN][1000 genomes]
rs3917425	0.87[ASN][1000 genomes]
rs3917427	0.87[ASN][1000 genomes]
rs3917431	0.83[AFR][1000 genomes]
rs3917441	0.87[ASN][1000 genomes]
rs3917450	0.83[AFR][1000 genomes]
rs3917452	0.87[ASN][1000 genomes]
rs41272481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41304562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs476485	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs478116	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs486431	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs490469	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs490776	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs495092	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs495642	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4987289	0.83[AFR][1000 genomes]
rs4987294	0.83[AFR][1000 genomes]
rs4987295	0.83[AFR][1000 genomes]
rs4987365	0.83[AFR][1000 genomes]
rs4987383	0.83[AFR][1000 genomes]
rs505336	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs506196	0.82[EUR][1000 genomes]
rs510681	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs511443	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs511609	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs517649	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs518928	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs520990	0.82[EUR][1000 genomes]
rs521165	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs522017	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5357	0.87[ASN][1000 genomes]
rs536080	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5362	0.87[ASN][1000 genomes]
rs5363	0.87[ASN][1000 genomes]
rs536358	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5367	0.87[ASN][1000 genomes]
rs537976	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs541711	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs544008	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs545954	0.83[EUR][1000 genomes]
rs545963	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs549537	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs553209	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs554060	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55686910	0.83[AFR][1000 genomes]
rs557475	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs558540	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs558782	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs559969	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs560414	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs562054	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56230202	0.87[ASN][1000 genomes]
rs562837	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs565397	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs565626	0.83[EUR][1000 genomes]
rs571806	0.85[EUR][1000 genomes]
rs57357201	0.87[ASN][1000 genomes]
rs575147	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs576225	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs578916	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57952001	0.89[EUR][1000 genomes]
rs579553	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs582900	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs583604	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs590181	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs591202	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs591559	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs593406	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs595984	0.85[EUR][1000 genomes]
rs598763	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs601355	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs602556	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs606047	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs606409	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs607707	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs612548	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs615485	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs615915	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs616789	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs618149	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs629593	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs630179	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs638486	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs642352	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs644834	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs646730	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs647113	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs648502	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs654664	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs655133	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs655474	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs656334	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs656848	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs657254	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs659363	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs661516	0.81[AMR][1000 genomes]
rs664598	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs664962	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6681685	0.89[EUR][1000 genomes]
rs671921	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs672843	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs673656	0.85[EUR][1000 genomes]
rs673789	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs674896	0.87[EUR][1000 genomes]
rs675394	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs676020	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs677630	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs680269	0.82[EUR][1000 genomes]
rs685155	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs686519	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs686911	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs687195	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74122419	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs850771	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9645328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9645329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs12144204	METTL18	cis	Thyroid	GTEx
rs12144204	METTL18	cis	Artery Aorta	GTEx
rs12144204	METTL18	cis	Muscle Skeletal	GTEx
rs12144204	METTL18	cis	Heart Left Ventricle	GTEx
rs12144204	METTL18	cis	lung	GTEx
rs12144204	METTL18	cis	Nerve Tibial	GTEx
rs12144204	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs12144204	METTL18	cis	Esophagus Mucosa	GTEx
rs12144204	METTL18	cis	Stomach	GTEx
rs12144204	METTL18	cis	Adipose Subcutaneous	GTEx
rs12144204	METTL18	cis	Artery Tibial	GTEx
rs12144204	METTL18	cis	Esophagus Muscularis	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169762600-169765400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:169762800-169765400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:169763000-169765600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:169763000-169766400	Active TSS	GM12878-XiMat	blood
5	chr1:169763200-169765400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:169763200-169765600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:169763400-169765400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:169763400-169765400	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:169763600-169765400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:169763600-169765400	Active TSS	NH-A	brain
11	chr1:169764400-169765400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr1:169764400-169765400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:169764400-169765400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:169764600-169765400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr1:169764600-169765600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr1:169764600-169765600	Flanking Active TSS	HUVEC	blood vessel
17	chr1:169764600-169782400	Weak transcription	Pancreas	Pancrea
18	chr1:169764800-169765400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:169764800-169765400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:169764800-169765400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:169764800-169765400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:169764800-169765400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:169764800-169765400	Active TSS	Colonic Mucosa	Colon
24	chr1:169764800-169765400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:169764800-169765600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:169764800-169765600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:169764800-169765600	Enhancers	Fetal Lung	lung
28	chr1:169764800-169765600	Enhancers	Small Intestine	intestine
29	chr1:169764800-169765600	Flanking Active TSS	Hela-S3	cervix
30	chr1:169764800-169769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:169764800-169793200	Weak transcription	Aorta	Aorta
32	chr1:169764800-169793200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:169764800-169793400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:169764800-169795200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:169764800-169796200	Weak transcription	Spleen	Spleen
36	chr1:169764800-169818200	Weak transcription	Esophagus	oesophagus
37	chr1:169764800-169818200	Weak transcription	Lung	lung
38	chr1:169764800-169823600	Weak transcription	Gastric	stomach
39	chr1:169765000-169765400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:169765000-169765400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:169765000-169765400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:169765000-169765400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:169765000-169765400	Enhancers	Liver	Liver
44	chr1:169765000-169765400	Active TSS	Brain Germinal Matrix	brain
45	chr1:169765000-169765400	Enhancers	Colon Smooth Muscle	Colon
46	chr1:169765000-169765400	Enhancers	Fetal Heart	heart
47	chr1:169765000-169765400	Flanking Active TSS	Fetal Thymus	thymus
48	chr1:169765000-169765400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr1:169765000-169765400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:169765000-169765400	Flanking Active TSS	A549	lung

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