Variant report

Variant	rs1368345
Chromosome Location	chr5:145687295-145687296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10515564	0.92[CHB][hapmap]
rs10515565	0.83[ASW][hapmap];0.96[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10515566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10515567	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1054020	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1115080	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11167932	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11167936	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11167937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11948314	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs11950903	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11952445	0.90[ASN][1000 genomes]
rs11953090	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11953506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11953517	1.00[CHB][hapmap];0.97[CHD][hapmap]
rs11954297	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11954750	1.00[CHB][hapmap]
rs11954977	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs11955206	0.90[ASN][1000 genomes]
rs11957907	1.00[ASN][1000 genomes]
rs11957998	1.00[CHB][hapmap]
rs11958136	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11958633	0.98[ASN][1000 genomes]
rs12152830	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153109	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs12153364	1.00[ASN][1000 genomes]
rs12186358	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs12187277	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12189077	0.90[ASN][1000 genomes]
rs12189385	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs13153675	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs13153891	0.84[ASN][1000 genomes]
rs13154219	0.88[ASN][1000 genomes]
rs13155119	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13157784	0.96[ASN][1000 genomes]
rs13160605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13160905	0.83[ASN][1000 genomes]
rs13161075	0.92[CHB][hapmap];0.80[JPT][hapmap]
rs13161488	0.87[EUR][1000 genomes]
rs13161659	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs13162175	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13164872	1.00[ASN][1000 genomes]
rs13168967	0.83[ASN][1000 genomes]
rs13169370	0.84[ASN][1000 genomes]
rs13169390	0.91[ASN][1000 genomes]
rs13171939	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13173347	0.85[ASN][1000 genomes]
rs13173462	0.92[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs13175587	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13177015	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13178370	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs13178443	0.86[ASN][1000 genomes]
rs13178516	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs13178840	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs13179296	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13180255	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13182567	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs13182948	0.98[ASN][1000 genomes]
rs13183541	0.84[ASN][1000 genomes]
rs13183976	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13185518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13186694	1.00[CHB][hapmap]
rs1395277	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1567057	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17096590	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17104362	0.83[LWK][hapmap];0.93[MKK][hapmap]
rs17104395	0.91[AFR][1000 genomes]
rs17427286	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs17427691	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs17428100	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs17428465	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs17428570	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs17428724	1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[JPT][hapmap]
rs17429180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17443315	1.00[ASN][1000 genomes]
rs17492851	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs17492893	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs17492950	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs17493090	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs17500483	0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs17500504	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs17501177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17501601	0.88[ASN][1000 genomes]
rs17502157	0.90[ASN][1000 genomes]
rs17502233	0.89[ASN][1000 genomes]
rs17502345	0.91[ASN][1000 genomes]
rs17687490	0.89[ASN][1000 genomes]
rs1864948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876189	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1911112	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1911113	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2014462	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014469	1.00[ASN][1000 genomes]
rs2014473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053045	0.82[ASN][1000 genomes]
rs2063002	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs2063005	0.92[CHB][hapmap];0.87[CHD][hapmap];0.91[MEX][hapmap]
rs2116749	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs2279895	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs2304032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2304033	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2400209	0.92[CHB][hapmap]
rs2400211	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap]
rs2895647	1.00[CHB][hapmap];0.97[CHD][hapmap]
rs2895648	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs2895649	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs2939523	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2939533	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2939535	0.80[AMR][1000 genomes]
rs2939536	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2962502	1.00[CHB][hapmap]
rs2962511	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs2963914	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2963915	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs2963919	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs2963921	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs2963926	0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34082425	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34141601	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34444119	0.83[ASN][1000 genomes]
rs34519824	0.83[EUR][1000 genomes]
rs34775587	0.90[ASN][1000 genomes]
rs34812645	0.82[ASN][1000 genomes]
rs34819107	0.98[ASN][1000 genomes]
rs34993855	1.00[ASN][1000 genomes]
rs35170264	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35369194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35575652	0.90[ASN][1000 genomes]
rs35728795	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35870798	0.90[ASN][1000 genomes]
rs35935643	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35947468	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36019024	0.83[ASN][1000 genomes]
rs3749994	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs3763373	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs3797628	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap]
rs3822623	1.00[CHB][hapmap]
rs3828935	0.92[CHB][hapmap];0.93[CHD][hapmap]
rs3937558	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413574	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs4705156	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705157	0.90[ASN][1000 genomes]
rs4705179	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4705445	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4913064	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs55726586	0.93[ASN][1000 genomes]
rs55937908	0.85[ASN][1000 genomes]
rs56240028	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56413906	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58848845	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58922378	0.85[AFR][1000 genomes]
rs62372766	0.89[ASN][1000 genomes]
rs62372767	0.86[ASN][1000 genomes]
rs62372768	0.90[ASN][1000 genomes]
rs62372769	0.90[ASN][1000 genomes]
rs62372772	0.90[ASN][1000 genomes]
rs62372773	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62373823	0.82[EUR][1000 genomes]
rs62373831	0.82[ASN][1000 genomes]
rs6580413	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861532	0.82[EUR][1000 genomes]
rs6867146	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6868728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878005	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6881180	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6882517	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6884493	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6893994	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7443214	1.00[CHB][hapmap];0.96[CHD][hapmap];0.80[JPT][hapmap]
rs7702123	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7703269	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7711896	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7722258	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7724811	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7727353	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7728381	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs7729098	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9918101	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9918130	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][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
rs1368345	LARS	cis	parietal	SCAN
rs1368345	LARS	cis	Thyroid	GTEx
rs1368345	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs1368345	PLAC8L1	cis	parietal	SCAN
rs1368345	LARS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145685600-145688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:145686200-145687400	Enhancers	Left Ventricle	heart
3	chr5:145686400-145687400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr5:145686400-145688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:145687000-145687600	Enhancers	Right Atrium	heart
6	chr5:145687000-145687800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:145687200-145687400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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