Variant report

Variant	rs7047930
Chromosome Location	chr9:97227081-97227082
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs2006685	0.86[ASN][1000 genomes]
rs2049008	0.92[ASN][1000 genomes]
rs2277182	0.85[ASN][1000 genomes]
rs2479602	1.00[AFR][1000 genomes]
rs4434674	0.85[ASN][1000 genomes]
rs4477096	0.85[ASN][1000 genomes]
rs4497033	0.86[ASN][1000 genomes]
rs4509403	0.94[ASN][1000 genomes]
rs4743953	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4743954	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4743955	0.94[ASN][1000 genomes]
rs4744340	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4744346	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6479544	0.80[ASN][1000 genomes]
rs688165	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7020879	0.92[ASN][1000 genomes]
rs7023744	0.85[ASN][1000 genomes]
rs7023915	0.84[ASN][1000 genomes]
rs7024159	0.94[ASN][1000 genomes]
rs7025755	0.85[ASN][1000 genomes]
rs7027465	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7027489	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7031088	0.96[ASN][1000 genomes]
rs7031496	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7031949	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7037190	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7037198	0.92[ASN][1000 genomes]
rs7038593	0.80[ASN][1000 genomes]
rs7040577	0.85[ASN][1000 genomes]
rs7040710	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7041503	0.83[ASN][1000 genomes]
rs7047279	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7047295	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7048688	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7848221	0.86[ASN][1000 genomes]
rs7848227	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7863310	0.86[ASN][1000 genomes]
rs7863312	0.86[ASN][1000 genomes]
rs7868562	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7873525	0.90[ASN][1000 genomes]
rs9299421	0.92[ASN][1000 genomes]
rs9299422	0.93[ASN][1000 genomes]
rs9409552	0.86[ASN][1000 genomes]
rs9409759	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9409763	0.85[ASN][1000 genomes]
rs9409765	0.85[ASN][1000 genomes]
rs9409777	0.92[ASN][1000 genomes]
rs9409779	0.92[ASN][1000 genomes]
rs9409792	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9409793	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9777207	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv893593	chr9:97196979-97228918	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv893594	chr9:97221463-97283226	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7047930	RP11-307E17.8	cis	Esophagus Muscularis	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97222600-97237800	Weak transcription	Stomach Mucosa	stomach
2	chr9:97224400-97227800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:97225000-97227200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:97225200-97227400	Weak transcription	HUVEC	blood vessel
5	chr9:97225200-97228000	Weak transcription	HMEC	breast
6	chr9:97225400-97227200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:97225400-97227200	Weak transcription	Thymus	Thymus
8	chr9:97225400-97228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:97225400-97228200	Weak transcription	NHEK	skin
10	chr9:97225600-97227200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr9:97225600-97227400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:97225800-97227200	Weak transcription	HSMMtube	muscle
13	chr9:97225800-97227600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr9:97225800-97227800	Weak transcription	HSMM	muscle
15	chr9:97227000-97227400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:97227000-97227400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:97227000-97227400	ZNF genes & repeats	Liver	Liver

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