Variant report

Variant	rs2014469
Chromosome Location	chr5:145686252-145686253
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10515565	0.88[ASN][1000 genomes]
rs10515566	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10515567	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1115080	0.99[ASN][1000 genomes]
rs11167937	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11540215	0.85[AMR][1000 genomes]
rs11948016	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11949351	0.85[AMR][1000 genomes]
rs11952445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11953090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11953506	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11954297	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11955206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11957830	0.84[AMR][1000 genomes]
rs11957888	0.85[AMR][1000 genomes]
rs11957907	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957998	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11958136	0.90[ASN][1000 genomes]
rs11958633	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12152830	1.00[ASN][1000 genomes]
rs12153364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187277	0.85[ASN][1000 genomes]
rs12188772	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12189077	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13153891	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13154219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13154735	0.85[AMR][1000 genomes]
rs13155119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13157279	0.85[AMR][1000 genomes]
rs13157784	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13159380	0.85[AMR][1000 genomes]
rs13160605	0.99[ASN][1000 genomes]
rs13160905	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13161036	0.85[AMR][1000 genomes]
rs13164872	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168967	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13169370	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13169390	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171596	0.85[AMR][1000 genomes]
rs13171939	0.84[ASN][1000 genomes]
rs13173347	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13173462	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13176784	0.82[AMR][1000 genomes]
rs13176915	0.85[AMR][1000 genomes]
rs13177015	0.87[ASN][1000 genomes]
rs13178443	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13178755	0.85[AMR][1000 genomes]
rs13179517	0.85[AMR][1000 genomes]
rs13180255	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13182948	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13183541	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13183976	0.83[ASN][1000 genomes]
rs13185518	0.97[ASN][1000 genomes]
rs13185586	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13186701	0.85[AMR][1000 genomes]
rs1368345	1.00[ASN][1000 genomes]
rs1506431	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1567057	0.90[ASN][1000 genomes]
rs17096590	0.97[ASN][1000 genomes]
rs17428647	0.85[AMR][1000 genomes]
rs17428724	0.85[AMR][1000 genomes]
rs17429180	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17443315	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500927	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17501177	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17501601	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17502157	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502233	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17502345	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17687490	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1864948	1.00[ASN][1000 genomes]
rs2014462	1.00[ASN][1000 genomes]
rs2014473	1.00[ASN][1000 genomes]
rs2053045	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2063002	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2279895	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2304032	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2304033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2939523	0.85[ASN][1000 genomes]
rs2962515	0.82[AMR][1000 genomes]
rs2963926	0.90[ASN][1000 genomes]
rs33914983	0.85[AMR][1000 genomes]
rs34014355	0.85[AMR][1000 genomes]
rs34082425	0.85[ASN][1000 genomes]
rs34141601	0.84[ASN][1000 genomes]
rs34405762	0.82[AMR][1000 genomes]
rs34444119	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34533649	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34775587	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34812645	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34819107	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34993855	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35048686	0.85[AMR][1000 genomes]
rs35142541	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35369194	0.95[ASN][1000 genomes]
rs35421100	0.85[AMR][1000 genomes]
rs35575652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35870798	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35935643	0.84[ASN][1000 genomes]
rs35947468	0.90[ASN][1000 genomes]
rs36019024	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3937558	1.00[ASN][1000 genomes]
rs4413574	0.85[AMR][1000 genomes]
rs4443471	0.85[AMR][1000 genomes]
rs4705156	0.90[ASN][1000 genomes]
rs4705157	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705179	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55665974	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55726586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55799797	0.85[AMR][1000 genomes]
rs55909935	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55937908	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56338615	0.85[AMR][1000 genomes]
rs56410805	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56413906	0.97[ASN][1000 genomes]
rs58848845	0.87[ASN][1000 genomes]
rs62372766	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62372767	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62372768	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62372769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62372772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62372773	0.90[ASN][1000 genomes]
rs62373811	0.81[AMR][1000 genomes]
rs62373812	0.85[AMR][1000 genomes]
rs62373813	0.85[AMR][1000 genomes]
rs62373819	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62373824	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62373831	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580413	1.00[ASN][1000 genomes]
rs6867146	0.90[ASN][1000 genomes]
rs6868728	1.00[ASN][1000 genomes]
rs6870878	0.97[ASN][1000 genomes]
rs6878005	0.84[ASN][1000 genomes]
rs6881180	0.83[ASN][1000 genomes]
rs6882517	0.82[ASN][1000 genomes]
rs6884493	0.90[ASN][1000 genomes]
rs6893994	0.97[ASN][1000 genomes]
rs71594528	0.85[AMR][1000 genomes]
rs7443214	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7702123	0.92[ASN][1000 genomes]
rs7703269	0.92[ASN][1000 genomes]
rs7722258	0.90[ASN][1000 genomes]
rs7724811	0.90[ASN][1000 genomes]
rs7729098	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462478	chr5:145622472-145687295	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599937	chr5:145622472-145687295	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2014469	LARS	cis	Artery Tibial	GTEx
rs2014469	LARS	cis	Nerve Tibial	GTEx
rs2014469	LARS	cis	Thyroid	GTEx
rs2014469	LARS	cis	Esophagus Muscularis	GTEx
rs2014469	LARS	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145684200-145687200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:145685600-145688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:145686200-145687400	Enhancers	Left Ventricle	heart

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