Variant report

Variant	rs72872218
Chromosome Location	chr3:54730293-54730294
allele	C/T
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:53)

rs_ID	r²[population]
rs10510769	1.00[ASN][1000 genomes]
rs10510770	1.00[ASN][1000 genomes]
rs10510772	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1130197	1.00[ASN][1000 genomes]
rs11914640	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11914780	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11918101	0.86[AMR][1000 genomes]
rs11924275	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12185982	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1427774	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054227	1.00[ASN][1000 genomes]
rs17054246	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054250	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054340	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17815617	1.00[ASN][1000 genomes]
rs17816548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17816566	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863858	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28455661	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2884808	1.00[ASN][1000 genomes]
rs34478567	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41381544	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345041	1.00[ASN][1000 genomes]
rs4386460	1.00[ASN][1000 genomes]
rs55675480	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772258	1.00[ASN][1000 genomes]
rs56008232	1.00[ASN][1000 genomes]
rs56112781	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56209938	1.00[ASN][1000 genomes]
rs56976748	1.00[ASN][1000 genomes]
rs57924227	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58295654	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59004379	0.92[AMR][1000 genomes];0.92[EUR][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	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870676	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870688	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872226	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872229	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872244	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872259	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872285	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72872300	0.83[AMR][1000 genomes]
rs72874203	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72874204	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73068445	1.00[ASN][1000 genomes]
rs7624695	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72872218	ESRG	cis	Whole Blood	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54713600-54743400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:54725600-54731200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:54725800-54730400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:54725800-54731600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:54725800-54731600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:54726000-54731400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:54726600-54730400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:54726600-54731400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:54726800-54731400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:54728400-54731800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:54728800-54731600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:54729400-54731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:54729800-54731800	Enhancers	HMEC	breast
14	chr3:54730000-54730800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:54730000-54731600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:54730000-54734000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:54730200-54730400	Enhancers	Fetal Brain Male	brain
18	chr3:54730200-54730800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:54730200-54731000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:54730200-54732400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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