Variant report

Variant	rs34993855
Chromosome Location	chr5:145684994-145684995
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145682961..145685958-chr5:145691254..145694928,4	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10515565	0.88[ASN][1000 genomes]
rs10515566	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10515567	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1115080	0.99[ASN][1000 genomes]
rs11167937	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11540215	0.83[AMR][1000 genomes]
rs11948016	0.85[AMR][1000 genomes]
rs11949351	0.83[AMR][1000 genomes]
rs11952445	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11953090	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11953506	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11954297	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11955206	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11957830	0.82[AMR][1000 genomes]
rs11957888	0.83[AMR][1000 genomes]
rs11957907	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957998	0.85[AMR][1000 genomes]
rs11958136	0.90[ASN][1000 genomes]
rs11958633	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12152830	1.00[ASN][1000 genomes]
rs12153364	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187277	0.85[ASN][1000 genomes]
rs12188772	0.85[AMR][1000 genomes]
rs12189077	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13153891	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13154219	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13154735	0.83[AMR][1000 genomes]
rs13155119	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13157279	0.83[AMR][1000 genomes]
rs13157784	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13159380	0.83[AMR][1000 genomes]
rs13160605	0.99[ASN][1000 genomes]
rs13160905	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13161036	0.83[AMR][1000 genomes]
rs13161488	0.83[AMR][1000 genomes]
rs13164872	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168967	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13169370	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13169390	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171596	0.83[AMR][1000 genomes]
rs13171939	0.84[ASN][1000 genomes]
rs13173347	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13173462	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13176784	0.80[AMR][1000 genomes]
rs13176915	0.83[AMR][1000 genomes]
rs13177015	0.87[ASN][1000 genomes]
rs13178443	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13178755	0.83[AMR][1000 genomes]
rs13179517	0.83[AMR][1000 genomes]
rs13180255	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13182948	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13183541	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13183976	0.83[ASN][1000 genomes]
rs13185518	0.97[ASN][1000 genomes]
rs13185586	0.88[AMR][1000 genomes]
rs13186701	0.83[AMR][1000 genomes]
rs1368345	1.00[ASN][1000 genomes]
rs1506431	0.88[AMR][1000 genomes]
rs1567057	0.90[ASN][1000 genomes]
rs17096590	0.97[ASN][1000 genomes]
rs17428647	0.83[AMR][1000 genomes]
rs17428724	0.83[AMR][1000 genomes]
rs17429180	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17443315	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500927	0.85[AMR][1000 genomes]
rs17501177	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17501601	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17502157	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502233	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17502345	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17687490	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1864948	1.00[ASN][1000 genomes]
rs2014462	1.00[ASN][1000 genomes]
rs2014469	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014473	1.00[ASN][1000 genomes]
rs2053045	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2063002	0.82[AMR][1000 genomes]
rs2279895	0.86[AMR][1000 genomes]
rs2304032	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2304033	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2939523	0.85[ASN][1000 genomes]
rs2963926	0.90[ASN][1000 genomes]
rs33914983	0.83[AMR][1000 genomes]
rs34014355	0.83[AMR][1000 genomes]
rs34082425	0.85[ASN][1000 genomes]
rs34141601	0.84[ASN][1000 genomes]
rs34405762	0.80[AMR][1000 genomes]
rs34444119	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34533649	0.88[AMR][1000 genomes]
rs34775587	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34812645	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34819107	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35048686	0.83[AMR][1000 genomes]
rs35142541	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35369194	0.95[ASN][1000 genomes]
rs35421100	0.83[AMR][1000 genomes]
rs35575652	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35870798	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35935643	0.84[ASN][1000 genomes]
rs35947468	0.90[ASN][1000 genomes]
rs36019024	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3937558	1.00[ASN][1000 genomes]
rs4413574	0.83[AMR][1000 genomes]
rs4443471	0.83[AMR][1000 genomes]
rs4705156	0.90[ASN][1000 genomes]
rs4705157	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705179	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55665974	0.85[AMR][1000 genomes]
rs55726586	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55799797	0.83[AMR][1000 genomes]
rs55909935	0.85[AMR][1000 genomes]
rs55937908	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56338615	0.83[AMR][1000 genomes]
rs56410805	0.85[AMR][1000 genomes]
rs56413906	0.97[ASN][1000 genomes]
rs58848845	0.87[ASN][1000 genomes]
rs62372766	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62372767	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62372768	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62372769	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62372772	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62372773	0.90[ASN][1000 genomes]
rs62373812	0.83[AMR][1000 genomes]
rs62373813	0.83[AMR][1000 genomes]
rs62373819	0.85[AMR][1000 genomes]
rs62373824	0.88[AMR][1000 genomes]
rs62373831	0.90[AMR][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	0.83[AMR][1000 genomes]
rs7443214	0.85[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34993855	LARS	Cis_1M	lymphoblastoid	RTeQTL
rs34993855	LARS	cis	Thyroid	GTEx

Chromatin state (count:1 , 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

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