Variant report

Variant	rs62255535
Chromosome Location	chr3:54659790-54659791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10510769	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10510770	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10510772	1.00[ASN][1000 genomes]
rs1130197	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914640	1.00[ASN][1000 genomes]
rs11914780	1.00[ASN][1000 genomes]
rs11924275	1.00[ASN][1000 genomes]
rs12185982	1.00[ASN][1000 genomes]
rs1427774	1.00[ASN][1000 genomes]
rs17054227	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054246	1.00[ASN][1000 genomes]
rs17054250	1.00[ASN][1000 genomes]
rs17054340	1.00[ASN][1000 genomes]
rs17815617	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17816548	1.00[ASN][1000 genomes]
rs17816566	1.00[ASN][1000 genomes]
rs1863858	1.00[ASN][1000 genomes]
rs2359857	0.85[EUR][1000 genomes]
rs28455661	1.00[ASN][1000 genomes]
rs2884808	1.00[ASN][1000 genomes]
rs34478567	1.00[ASN][1000 genomes]
rs41381544	1.00[ASN][1000 genomes]
rs4345041	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386460	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55675480	1.00[ASN][1000 genomes]
rs55772258	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55779022	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56008232	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56091855	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56112781	1.00[ASN][1000 genomes]
rs56209938	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56260111	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56356828	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56976748	1.00[ASN][1000 genomes]
rs57924227	1.00[ASN][1000 genomes]
rs58295654	1.00[ASN][1000 genomes]
rs59004379	1.00[ASN][1000 genomes]
rs62255527	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255532	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62255533	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255536	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255538	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803005	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870661	1.00[ASN][1000 genomes]
rs72870676	1.00[ASN][1000 genomes]
rs72870688	1.00[ASN][1000 genomes]
rs72872218	1.00[ASN][1000 genomes]
rs72872226	1.00[ASN][1000 genomes]
rs72872229	1.00[ASN][1000 genomes]
rs72872244	1.00[ASN][1000 genomes]
rs72872259	1.00[ASN][1000 genomes]
rs72872285	1.00[ASN][1000 genomes]
rs72874203	1.00[ASN][1000 genomes]
rs72874204	1.00[ASN][1000 genomes]
rs73068445	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7624695	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv525644	chr3:54653316-54709987	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62255535	ESRG	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54651000-54666400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:54652800-54665000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:54654000-54667000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:54654800-54662400	Weak transcription	Right Atrium	heart
5	chr3:54655000-54662400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:54655600-54662800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:54657800-54659800	Weak transcription	Esophagus	oesophagus
8	chr3:54658800-54659800	Enhancers	Spleen	Spleen
9	chr3:54658800-54662800	Weak transcription	Ovary	ovary
10	chr3:54659200-54664600	Weak transcription	Fetal Muscle Leg	muscle

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