Variant report

Variant	rs2329450
Chromosome Location	chr7:39591941-39591942
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10272782	0.91[ASN][1000 genomes]
rs11972333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11973821	0.82[ASN][1000 genomes]
rs11982120	1.00[ASN][1000 genomes]
rs11983780	0.82[ASN][1000 genomes]
rs12111825	0.82[ASN][1000 genomes]
rs12111975	0.80[ASN][1000 genomes]
rs12112633	0.82[ASN][1000 genomes]
rs12113030	0.82[ASN][1000 genomes]
rs12113190	0.82[ASN][1000 genomes]
rs17171602	0.91[ASN][1000 genomes]
rs17713666	0.84[ASN][1000 genomes]
rs17770427	0.84[ASN][1000 genomes]
rs17770433	0.84[ASN][1000 genomes]
rs17770523	0.92[ASN][1000 genomes]
rs2329452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720329	0.85[ASN][1000 genomes]
rs60671668	0.82[ASN][1000 genomes]
rs6958662	0.85[ASN][1000 genomes]
rs6964309	0.91[ASN][1000 genomes]
rs73375606	0.81[ASN][1000 genomes]
rs73375634	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375675	0.91[ASN][1000 genomes]
rs7803681	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7809088	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3475989	chr7:39591941-39592465	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39589400-39596200	Enhancers	Fetal Brain Male	brain
2	chr7:39590600-39594600	Weak transcription	Fetal Brain Female	brain
3	chr7:39591400-39592000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:39591400-39592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:39591400-39592000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:39591600-39592000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:39591600-39592000	Enhancers	Osteobl	bone
8	chr7:39591800-39592000	Enhancers	NHDF-Ad	bronchial

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