Variant report

Variant	rs1353720
Chromosome Location	chr1:220131522-220131523
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10495142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061242	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1061248	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10735497	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10746393	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10746394	0.85[EUR][1000 genomes]
rs10779388	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10779389	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10779390	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10779391	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863518	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863519	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863520	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863521	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118468	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118472	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118473	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118474	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118476	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11118477	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118480	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11811258	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12032866	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12032898	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12039217	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045445	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12049352	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12098052	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12126940	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12409750	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12726890	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1391566	0.84[EUR][1000 genomes]
rs17006909	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1846254	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1846255	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1874811	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874812	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874813	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874814	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1982984	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1982986	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2027504	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2030078	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2030079	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2047450	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047451	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2133194	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2133195	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2173403	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2270710	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2270712	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2789784	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28473426	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28602468	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34309222	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35195138	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3816993	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3816994	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4263999	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4323718	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385715	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4531301	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4536003	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4614265	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4846608	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661109	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663947	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663964	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686085	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6699954	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521388	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7521682	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7527659	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7527749	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7534891	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7535650	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7535767	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7535773	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7536968	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7539385	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7539937	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7553236	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs949866	0.85[EUR][1000 genomes];0.81[ASN][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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1353720	EPRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220128800-220132200	Weak transcription	K562	blood
2	chr1:220129200-220145800	Weak transcription	HepG2	liver
3	chr1:220129400-220133000	Weak transcription	Small Intestine	intestine
4	chr1:220130200-220132400	Active TSS	Fetal Intestine Large	intestine
5	chr1:220131400-220131600	Active TSS	Duodenum Mucosa	Duodenum
6	chr1:220131400-220132200	Active TSS	Fetal Intestine Small	intestine

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