Variant report

Variant	rs11958633
Chromosome Location	chr5:145678291-145678292
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145669514..145673620-chr5:145676899..145679881,3	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:209)

rs_ID	r²[population]
rs10491259	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs10491260	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs10491261	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs10515564	0.83[CEU][hapmap];0.92[CHB][hapmap]
rs10515565	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10515566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10515567	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1054020	1.00[CHB][hapmap]
rs1115080	0.97[ASN][1000 genomes]
rs11167932	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11167937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11540215	0.86[AMR][1000 genomes]
rs11948016	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11948314	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs11949351	0.86[AMR][1000 genomes]
rs11952445	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11953090	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11953506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11953517	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs11954083	0.82[CEU][hapmap]
rs11954297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11954750	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs11954977	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11955206	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11955557	0.81[AMR][1000 genomes]
rs11957830	0.85[AMR][1000 genomes]
rs11957888	0.86[AMR][1000 genomes]
rs11957907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11957998	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11958136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11958216	0.81[AMR][1000 genomes]
rs12152830	0.98[ASN][1000 genomes]
rs12153109	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs12153364	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12186358	1.00[CHB][hapmap]
rs12187277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12187913	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12188581	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12188772	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12189077	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12189385	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs13153675	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs13153891	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13154219	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13154735	0.86[AMR][1000 genomes]
rs13155119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13157279	0.86[AMR][1000 genomes]
rs13157784	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13159380	0.86[AMR][1000 genomes]
rs13160605	0.97[ASN][1000 genomes]
rs13160905	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13161036	0.86[AMR][1000 genomes]
rs13161075	0.82[CEU][hapmap];0.93[CHB][hapmap]
rs13161659	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs13164872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13168967	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13169370	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13169390	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13171596	0.86[AMR][1000 genomes]
rs13171939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13173347	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13173462	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13176784	0.84[AMR][1000 genomes]
rs13176915	0.86[AMR][1000 genomes]
rs13177015	0.85[ASN][1000 genomes]
rs13178370	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs13178443	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13178516	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs13178755	0.86[AMR][1000 genomes]
rs13178840	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs13179517	0.86[AMR][1000 genomes]
rs13180255	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13182302	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs13182567	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs13182948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13183541	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13183976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13185518	0.95[ASN][1000 genomes]
rs13185586	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13186694	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs13186701	0.86[AMR][1000 genomes]
rs1368345	0.98[ASN][1000 genomes]
rs1395277	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs1506431	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1567057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17096590	0.95[ASN][1000 genomes]
rs17427286	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17427691	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17428100	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs17428465	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17428570	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17428647	0.86[AMR][1000 genomes]
rs17428724	1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs17429180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17443315	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17492851	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17492893	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17492950	1.00[CHB][hapmap]
rs17493090	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17500483	1.00[CHB][hapmap]
rs17500504	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17500927	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17501177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17501601	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17502157	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17502233	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17502345	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17687490	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1864948	0.98[ASN][1000 genomes]
rs1911112	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs1911113	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs2014462	0.98[ASN][1000 genomes]
rs2014469	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2014473	0.98[ASN][1000 genomes]
rs2053045	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2063002	0.90[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2063005	0.92[CHB][hapmap]
rs2116749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2279895	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2304032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2304033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2400209	0.92[CHB][hapmap]
rs2400211	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2895647	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2895648	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2895649	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2939523	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2939536	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2962502	1.00[CHB][hapmap]
rs2962511	1.00[CHB][hapmap]
rs2962515	0.83[AMR][1000 genomes]
rs2963914	1.00[CHB][hapmap]
rs2963915	1.00[CHB][hapmap]
rs2963919	1.00[CHB][hapmap]
rs2963921	1.00[CHB][hapmap]
rs2963926	0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs33914983	0.86[AMR][1000 genomes]
rs34014355	0.86[AMR][1000 genomes]
rs34082425	0.83[ASN][1000 genomes]
rs34141601	0.82[ASN][1000 genomes]
rs34170515	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs34405762	0.84[AMR][1000 genomes]
rs34444119	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34533649	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34775587	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34812645	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34819107	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34993855	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35048686	0.86[AMR][1000 genomes]
rs35142541	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35369194	0.93[ASN][1000 genomes]
rs35421100	0.86[AMR][1000 genomes]
rs35575652	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35870798	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35935643	0.82[ASN][1000 genomes]
rs35947468	0.88[ASN][1000 genomes]
rs36019024	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3749994	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs3763373	0.86[CHB][hapmap]
rs3797628	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs3822623	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs3828935	0.92[CHB][hapmap]
rs3937558	0.98[ASN][1000 genomes]
rs41338847	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs4413574	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs4443471	0.86[AMR][1000 genomes]
rs4705156	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4705157	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4913064	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs55665974	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55726586	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55799797	0.86[AMR][1000 genomes]
rs55909935	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55937908	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56338615	0.86[AMR][1000 genomes]
rs56410805	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56413906	0.95[ASN][1000 genomes]
rs58848845	0.85[ASN][1000 genomes]
rs62372766	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62372767	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62372768	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62372769	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62372772	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62372773	0.88[ASN][1000 genomes]
rs62373811	0.82[AMR][1000 genomes]
rs62373812	0.86[AMR][1000 genomes]
rs62373813	0.86[AMR][1000 genomes]
rs62373819	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62373824	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62373831	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6580413	0.98[ASN][1000 genomes]
rs6867146	0.88[ASN][1000 genomes]
rs6868728	0.98[ASN][1000 genomes]
rs6870878	0.95[ASN][1000 genomes]
rs6878005	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6881180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6882517	0.81[ASN][1000 genomes]
rs6884493	0.88[ASN][1000 genomes]
rs6893994	0.95[ASN][1000 genomes]
rs71594528	0.86[AMR][1000 genomes]
rs7443214	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7702123	0.90[ASN][1000 genomes]
rs7703269	0.90[ASN][1000 genomes]
rs7722258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7724811	0.88[ASN][1000 genomes]
rs7728381	1.00[CHB][hapmap]
rs7729098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9918101	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	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
3	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
rs11958633	LARS	cis	Esophagus Muscularis	GTEx
rs11958633	LARS	cis	Artery Tibial	GTEx
rs11958633	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs11958633	LARS	cis	Nerve Tibial	GTEx
rs11958633	LARS	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145669000-145681000	Weak transcription	HSMM	muscle

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