Variant report

Variant	rs34054765
Chromosome Location	chr19:39247094-39247095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs1106372	1.00[AMR][1000 genomes]
rs11083478	0.96[ASN][1000 genomes]
rs12971309	1.00[AMR][1000 genomes]
rs12972987	1.00[AMR][1000 genomes]
rs12972997	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974733	1.00[AMR][1000 genomes]
rs12975079	1.00[AMR][1000 genomes]
rs12975256	1.00[AMR][1000 genomes]
rs12975953	0.96[AMR][1000 genomes]
rs12976598	1.00[AMR][1000 genomes]
rs12977631	1.00[ASN][1000 genomes]
rs12978273	1.00[AMR][1000 genomes]
rs12978715	1.00[AMR][1000 genomes]
rs12978914	0.95[AMR][1000 genomes]
rs12979947	1.00[AMR][1000 genomes]
rs12980399	0.95[AMR][1000 genomes]
rs12981131	0.91[AMR][1000 genomes]
rs12981984	1.00[AMR][1000 genomes]
rs12983550	1.00[AMR][1000 genomes]
rs12984794	0.96[AMR][1000 genomes]
rs12985030	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985558	1.00[AMR][1000 genomes]
rs12985871	1.00[AMR][1000 genomes]
rs12986032	0.91[AMR][1000 genomes]
rs12986121	1.00[AMR][1000 genomes]
rs12986337	1.00[AMR][1000 genomes]
rs17589359	1.00[AMR][1000 genomes]
rs2001856	1.00[AMR][1000 genomes]
rs2086147	0.89[ASN][1000 genomes]
rs2086148	1.00[AMR][1000 genomes]
rs2100941	0.96[ASN][1000 genomes]
rs2126970	1.00[AMR][1000 genomes]
rs2279145	1.00[AMR][1000 genomes]
rs2279146	0.96[AMR][1000 genomes]
rs2287728	0.95[AMR][1000 genomes]
rs2368524	0.93[ASN][1000 genomes]
rs34026184	1.00[AMR][1000 genomes]
rs34082501	1.00[AMR][1000 genomes]
rs34090445	1.00[ASN][1000 genomes]
rs34105297	1.00[AMR][1000 genomes]
rs34126343	1.00[AMR][1000 genomes]
rs34134906	1.00[AMR][1000 genomes]
rs34305426	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34332511	1.00[AMR][1000 genomes]
rs34361849	0.81[ASN][1000 genomes]
rs34368672	1.00[AMR][1000 genomes]
rs34525537	0.91[AMR][1000 genomes]
rs34558140	0.91[AMR][1000 genomes]
rs34563817	1.00[AMR][1000 genomes]
rs34592527	1.00[AMR][1000 genomes]
rs34695688	0.84[AMR][1000 genomes]
rs34703567	1.00[AMR][1000 genomes]
rs34717167	1.00[AMR][1000 genomes]
rs34776027	0.96[ASN][1000 genomes]
rs34834035	0.96[ASN][1000 genomes]
rs34843929	1.00[AMR][1000 genomes]
rs34862518	1.00[AMR][1000 genomes]
rs34899634	1.00[AMR][1000 genomes]
rs34911882	1.00[AMR][1000 genomes]
rs35007285	1.00[AMR][1000 genomes]
rs35026669	0.93[ASN][1000 genomes]
rs35074956	1.00[AMR][1000 genomes]
rs35096737	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35134120	0.91[AMR][1000 genomes]
rs35253157	0.87[ASN][1000 genomes]
rs35281901	1.00[AMR][1000 genomes]
rs35335944	0.96[ASN][1000 genomes]
rs35403788	1.00[AMR][1000 genomes]
rs35436155	1.00[AMR][1000 genomes]
rs35502825	0.96[ASN][1000 genomes]
rs35576862	1.00[AMR][1000 genomes]
rs35604174	0.96[ASN][1000 genomes]
rs35640008	1.00[AMR][1000 genomes]
rs35666464	1.00[AMR][1000 genomes]
rs35685980	1.00[AMR][1000 genomes]
rs35691365	0.91[AMR][1000 genomes]
rs35716073	1.00[AMR][1000 genomes]
rs35729716	1.00[AMR][1000 genomes]
rs35807146	1.00[AMR][1000 genomes]
rs35855940	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35856174	1.00[AMR][1000 genomes]
rs35941349	1.00[AMR][1000 genomes]
rs35974114	0.93[ASN][1000 genomes]
rs3786840	1.00[AMR][1000 genomes]
rs4435378	0.96[ASN][1000 genomes]
rs4473308	0.96[ASN][1000 genomes]
rs4474812	0.96[ASN][1000 genomes]
rs4491650	1.00[ASN][1000 genomes]
rs45599933	1.00[AMR][1000 genomes]
rs4801868	0.96[ASN][1000 genomes]
rs4802795	0.96[ASN][1000 genomes]
rs4802796	0.96[ASN][1000 genomes]
rs56817884	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56946356	1.00[AMR][1000 genomes]
rs57230275	0.95[AMR][1000 genomes]
rs58794115	0.85[ASN][1000 genomes]
rs59073128	0.96[ASN][1000 genomes]
rs60454376	0.96[AMR][1000 genomes]
rs61121905	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61417362	0.93[ASN][1000 genomes]
rs62119101	1.00[AMR][1000 genomes]
rs62119102	1.00[AMR][1000 genomes]
rs62119103	1.00[AMR][1000 genomes]
rs62119105	1.00[AMR][1000 genomes]
rs62119109	1.00[AMR][1000 genomes]
rs62119116	1.00[AMR][1000 genomes]
rs62120068	1.00[AMR][1000 genomes]
rs62120072	1.00[AMR][1000 genomes]
rs62120074	0.91[AMR][1000 genomes]
rs62120091	1.00[ASN][1000 genomes]
rs62120094	1.00[ASN][1000 genomes]
rs62120159	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62121365	0.93[ASN][1000 genomes]
rs62121373	0.96[ASN][1000 genomes]
rs62121374	0.96[ASN][1000 genomes]
rs62121375	0.96[ASN][1000 genomes]
rs62121819	0.84[AMR][1000 genomes]
rs62121821	1.00[AMR][1000 genomes]
rs62121823	1.00[AMR][1000 genomes]
rs62121827	1.00[AMR][1000 genomes]
rs62121829	1.00[AMR][1000 genomes]
rs71356822	1.00[AMR][1000 genomes]
rs7248577	1.00[AMR][1000 genomes]
rs7253700	0.96[ASN][1000 genomes]
rs7257060	0.89[ASN][1000 genomes]
rs7257063	0.89[ASN][1000 genomes]
rs73554745	0.96[ASN][1000 genomes]
rs7508528	0.96[ASN][1000 genomes]
rs8103530	0.84[AMR][1000 genomes]
rs8104815	1.00[AMR][1000 genomes]
rs8105055	1.00[AMR][1000 genomes]
rs8105069	1.00[AMR][1000 genomes]
rs8105080	0.96[AMR][1000 genomes]
rs8105216	1.00[AMR][1000 genomes]
rs8105550	1.00[AMR][1000 genomes]
rs899199	1.00[AMR][1000 genomes]
rs899200	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv1826260	chr19:39178364-39248836	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34054765	EIF3K	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39246400-39270800	Weak transcription	K562	blood
2	chr19:39246600-39249000	Weak transcription	HepG2	liver

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