Variant report

Variant	rs72874204
Chromosome Location	chr3:54787999-54788000
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10510769	1.00[ASN][1000 genomes]
rs10510770	1.00[ASN][1000 genomes]
rs10510772	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1130197	1.00[ASN][1000 genomes]
rs11914640	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914780	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11918101	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11924275	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927886	0.82[EUR][1000 genomes]
rs12185982	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427774	1.00[ASN][1000 genomes]
rs17054227	1.00[ASN][1000 genomes]
rs17054246	1.00[ASN][1000 genomes]
rs17054250	1.00[ASN][1000 genomes]
rs17054340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17815617	1.00[ASN][1000 genomes]
rs17816548	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17816566	1.00[ASN][1000 genomes]
rs1863858	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28455661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884808	1.00[ASN][1000 genomes]
rs34478567	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41381544	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4345041	1.00[ASN][1000 genomes]
rs4386460	1.00[ASN][1000 genomes]
rs55675480	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55772258	1.00[ASN][1000 genomes]
rs56008232	1.00[ASN][1000 genomes]
rs56112781	1.00[ASN][1000 genomes]
rs56209938	1.00[ASN][1000 genomes]
rs56976748	1.00[ASN][1000 genomes]
rs57924227	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58295654	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59004379	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62255527	1.00[ASN][1000 genomes]
rs62255533	1.00[ASN][1000 genomes]
rs62255534	1.00[ASN][1000 genomes]
rs62255535	1.00[ASN][1000 genomes]
rs62255536	1.00[ASN][1000 genomes]
rs62255538	1.00[ASN][1000 genomes]
rs6803005	1.00[ASN][1000 genomes]
rs72870661	1.00[ASN][1000 genomes]
rs72870676	1.00[ASN][1000 genomes]
rs72870688	1.00[ASN][1000 genomes]
rs72872218	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872226	1.00[ASN][1000 genomes]
rs72872229	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872244	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872259	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872285	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872300	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72874203	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73068445	1.00[ASN][1000 genomes]
rs7624695	1.00[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	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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72874204	ESRG	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54768400-54790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:54784600-54797200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:54785200-54793800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:54785800-54788600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:54785800-54798200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:54787400-54789200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:54787400-54792800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:54787400-54800200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:54787600-54790600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:54787600-54804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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