Variant report

Variant	rs72870661
Chromosome Location	chr3:54696410-54696411
allele	A/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:52)

rs_ID	r²[population]
rs10510769	1.00[ASN][1000 genomes]
rs10510770	1.00[ASN][1000 genomes]
rs10510772	1.00[ASN][1000 genomes]
rs1130197	1.00[ASN][1000 genomes]
rs11914640	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11914780	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11924275	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12185982	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1427774	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054227	1.00[ASN][1000 genomes]
rs17054246	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054250	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054340	1.00[ASN][1000 genomes]
rs17815617	1.00[ASN][1000 genomes]
rs17816548	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17816566	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863858	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28455661	1.00[ASN][1000 genomes]
rs2884808	1.00[ASN][1000 genomes]
rs34478567	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41381544	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345041	1.00[ASN][1000 genomes]
rs4386460	1.00[ASN][1000 genomes]
rs55675480	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772258	1.00[ASN][1000 genomes]
rs56008232	1.00[ASN][1000 genomes]
rs56112781	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56209938	1.00[ASN][1000 genomes]
rs56976748	1.00[ASN][1000 genomes]
rs57924227	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58295654	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59004379	0.84[AMR][1000 genomes];0.86[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]
rs72870676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870688	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872218	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872226	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872229	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872244	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872259	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872285	1.00[ASN][1000 genomes]
rs72872300	0.80[AMR][1000 genomes]
rs72874203	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72874204	1.00[ASN][1000 genomes]
rs73068445	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
rs72870661	ESRG	cis	Whole Blood	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54685200-54704000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:54689200-54697200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:54691400-54704000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:54693400-54697800	Weak transcription	Right Atrium	heart
5	chr3:54693400-54702400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:54693600-54699200	Enhancers	Fetal Muscle Leg	muscle
7	chr3:54693800-54696600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:54694000-54702200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:54694000-54702400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:54694000-54702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:54694000-54702800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:54694800-54697200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:54695200-54697200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:54695200-54697800	Weak transcription	Psoas Muscle	Psoas
15	chr3:54695200-54703200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:54695400-54697000	Weak transcription	Fetal Kidney	kidney
17	chr3:54695400-54697600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:54695400-54697600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:54695400-54697800	Weak transcription	Spleen	Spleen
20	chr3:54695400-54698200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:54695400-54703800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:54695600-54697800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:54695600-54702200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:54695600-54704000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:54696000-54697000	Enhancers	Fetal Muscle Trunk	muscle
26	chr3:54696200-54696600	Weak transcription	Fetal Stomach	stomach
27	chr3:54696200-54697000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:54696400-54697600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:54696400-54698200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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