Variant report

Variant	rs12185982
Chromosome Location	chr3:54791336-54791337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10510769	1.00[ASN][1000 genomes]
rs10510770	1.00[ASN][1000 genomes]
rs10510771	1.00[JPT][hapmap]
rs10510772	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1130197	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11914640	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914780	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914973	1.00[JPT][hapmap]
rs11918101	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11920788	1.00[JPT][hapmap]
rs11924275	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925949	1.00[JPT][hapmap]
rs11927886	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs1427774	1.00[ASN][1000 genomes]
rs17054227	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17054246	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17054250	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17054291	1.00[JPT][hapmap]
rs17054293	1.00[JPT][hapmap]
rs17054340	0.92[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17815617	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17816548	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17816566	1.00[ASN][1000 genomes]
rs1863858	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359857	1.00[JPT][hapmap]
rs28455661	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884808	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34478567	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41381544	1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4345041	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4358270	1.00[JPT][hapmap]
rs4386460	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55675480	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55772258	1.00[ASN][1000 genomes]
rs56008232	1.00[ASN][1000 genomes]
rs56112781	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56209938	1.00[ASN][1000 genomes]
rs56976748	1.00[ASN][1000 genomes]
rs57924227	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58295654	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59004379	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[JPT][hapmap];1.00[ASN][1000 genomes]
rs72870661	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72870676	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72870688	1.00[ASN][1000 genomes]
rs72872218	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872226	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872229	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872244	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872259	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872285	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872300	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72874203	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72874204	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73068445	1.00[ASN][1000 genomes]
rs737517	1.00[JPT][hapmap]
rs7624695	1.00[JPT][hapmap];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
rs12185982	ESRG	cis	Whole Blood	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54784600-54797200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:54785200-54793800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:54785800-54798200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:54787400-54792800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:54787400-54800200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:54787600-54804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:54788800-54792600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:54789000-54791800	Enhancers	NHLF	lung
9	chr3:54789400-54791400	Enhancers	NHDF-Ad	bronchial
10	chr3:54789400-54793800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:54789800-54791400	Enhancers	NH-A	brain
12	chr3:54790000-54794400	Enhancers	Fetal Stomach	stomach
13	chr3:54790200-54791400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:54790600-54794600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:54790800-54792200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:54790800-54793600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:54790800-54794200	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:54791000-54792400	Weak transcription	Rectal Smooth Muscle	rectum

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