Variant report

Variant	rs12132692
Chromosome Location	chr1:169732743-169732744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:194)

rs_ID	r²[population]
rs1046058	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10489173	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10489174	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10489176	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10919253	0.82[EUR][1000 genomes]
rs12116524	0.82[EUR][1000 genomes]
rs12116650	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12118431	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12118559	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12119368	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12119386	0.82[EUR][1000 genomes]
rs12119635	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12120114	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12120647	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120727	0.82[EUR][1000 genomes]
rs12121045	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12121113	0.87[ASN][1000 genomes]
rs12121313	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121443	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12121606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121614	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12121681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122419	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12122582	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12122776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123432	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs12123483	0.82[EUR][1000 genomes]
rs12123942	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124032	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12124561	0.83[CEU][hapmap]
rs12124750	0.80[CEU][hapmap]
rs12124775	0.82[EUR][1000 genomes]
rs12125023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125595	0.83[CEU][hapmap]
rs12125679	0.83[CEU][hapmap]
rs12126591	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12127211	0.83[CEU][hapmap]
rs12127500	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12128308	0.83[CEU][hapmap]
rs12128695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128929	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12129443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130372	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12130784	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131192	0.83[CEU][hapmap]
rs12131357	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs12131444	0.82[EUR][1000 genomes]
rs12132222	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12132384	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12132633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133074	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12134837	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12134886	0.83[CEU][hapmap]
rs12135057	0.82[EUR][1000 genomes]
rs12135361	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12135559	0.82[EUR][1000 genomes]
rs12135642	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12135726	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12136425	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12137905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12138861	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12140656	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12141317	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12141572	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12142093	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12142511	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12143057	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12143161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12143301	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12144204	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12144207	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12144683	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12145417	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12145458	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12145504	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145574	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1496	0.82[EUR][1000 genomes]
rs1569457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16828222	0.83[CEU][hapmap]
rs16862751	0.83[CEU][hapmap]
rs17527744	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17529304	0.83[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17529791	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17543370	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17543611	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17543730	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17544586	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17544823	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17593568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593862	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17601414	0.82[EUR][1000 genomes]
rs17601582	0.82[EUR][1000 genomes]
rs17601631	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17602051	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs17602072	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17602701	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17603570	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17603666	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs1800015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800016	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2272919	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2272920	0.83[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2272921	0.81[EUR][1000 genomes]
rs2750018	0.83[CEU][hapmap]
rs2750019	0.83[CEU][hapmap]
rs2806384	0.83[CEU][hapmap]
rs2806385	0.88[CEU][hapmap]
rs2806387	0.83[CEU][hapmap]
rs2806389	0.83[CEU][hapmap]
rs2806392	0.83[CEU][hapmap]
rs3766135	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3766141	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3766143	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3917388	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917396	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3917410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3917411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917424	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3917452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917453	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41272481	0.82[EUR][1000 genomes]
rs41304562	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4519	0.83[CEU][hapmap]
rs478116	0.90[CEU][hapmap]
rs486431	0.90[CEU][hapmap]
rs490469	0.83[CEU][hapmap]
rs495092	0.83[CEU][hapmap]
rs4987299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987317	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4987340	1.00[CEU][hapmap]
rs4987343	1.00[CEU][hapmap]
rs4987345	1.00[CEU][hapmap]
rs4987363	1.00[CEU][hapmap]
rs4987395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs517649	0.88[CEU][hapmap]
rs522017	0.82[CEU][hapmap]
rs5357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541711	0.83[CEU][hapmap]
rs544008	0.83[CEU][hapmap]
rs549537	0.83[CEU][hapmap]
rs554060	0.83[CEU][hapmap]
rs560414	0.83[CEU][hapmap]
rs56230202	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565397	0.83[CEU][hapmap]
rs565626	0.83[CEU][hapmap]
rs57357201	1.00[ASN][1000 genomes]
rs575147	0.83[CEU][hapmap]
rs579553	0.83[CEU][hapmap]
rs582900	0.83[CEU][hapmap]
rs590181	0.83[CEU][hapmap]
rs593406	0.83[CEU][hapmap]
rs601355	0.83[CEU][hapmap]
rs602556	0.83[CEU][hapmap]
rs612548	0.83[CEU][hapmap]
rs618149	0.83[CEU][hapmap]
rs644834	0.83[CEU][hapmap]
rs647113	0.83[CEU][hapmap]
rs655133	0.83[CEU][hapmap]
rs656334	0.83[CEU][hapmap]
rs656848	0.90[CEU][hapmap]
rs657254	0.83[CEU][hapmap]
rs664598	0.83[CEU][hapmap]
rs664962	0.83[CEU][hapmap]
rs671921	0.89[CEU][hapmap]
rs672843	0.88[CEU][hapmap]
rs673789	0.83[CEU][hapmap]
rs676020	0.83[CEU][hapmap]
rs685155	0.83[CEU][hapmap]
rs686519	0.83[CEU][hapmap]
rs686911	0.80[CEU][hapmap]
rs909628	1.00[CEU][hapmap]
rs9645328	0.82[EUR][1000 genomes]
rs9645329	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[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:14)

SNP	Gene	Cis/trans	Tissue	Source
rs12132692	METTL18	cis	Artery Tibial	GTEx
rs12132692	METTL18	cis	Heart Left Ventricle	GTEx
rs12132692	METTL18	cis	lung	GTEx
rs12132692	METTL18	cis	Stomach	GTEx
rs12132692	METTL18	cis	Thyroid	GTEx
rs12132692	METTL18	cis	Esophagus Mucosa	GTEx
rs12132692	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs12132692	METTL18	cis	Nerve Tibial	GTEx
rs12132692	C1orf156	cis	lesional skin	skin_eQTL
rs12132692	METTL18	cis	Esophagus Muscularis	GTEx
rs12132692	C1orf156	cis	uninvolved skin	skin_eQTL
rs12132692	METTL18	cis	Adipose Subcutaneous	GTEx
rs12132692	METTL18	cis	Artery Aorta	GTEx
rs12132692	METTL18	cis	Muscle Skeletal	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169728000-169732800	Weak transcription	Adipose Nuclei	Adipose
2	chr1:169731200-169733200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:169731600-169732800	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr1:169732200-169732800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:169732200-169732800	Bivalent Enhancer	Small Intestine	intestine
6	chr1:169732200-169733000	Enhancers	Fetal Intestine Large	intestine
7	chr1:169732600-169735000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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