Variant report

Variant	rs72834595
Chromosome Location	chr2:111765336-111765337
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10183208	0.88[AFR][1000 genomes]
rs11123295	0.85[AFR][1000 genomes]
rs11679060	0.90[AFR][1000 genomes]
rs11896172	0.90[AFR][1000 genomes]
rs13339827	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1384791	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384792	0.90[AFR][1000 genomes]
rs1384794	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17041796	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17041797	0.89[EUR][1000 genomes]
rs2341657	0.89[AFR][1000 genomes]
rs2341658	0.90[AFR][1000 genomes]
rs3789083	0.86[EUR][1000 genomes]
rs3827542	0.86[EUR][1000 genomes]
rs4849327	0.86[AFR][1000 genomes]
rs55833189	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105404	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56170128	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59486976	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61145952	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66504720	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66509834	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67234811	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67250604	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6730256	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68080118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834562	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72834571	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72834576	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72834578	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72834584	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72834594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72836304	0.87[ASN][1000 genomes]
rs72946240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420839	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111759000-111769000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:111763600-111765600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:111764000-111765800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr2:111765000-111766000	Enhancers	Stomach Mucosa	stomach
5	chr2:111765200-111765400	Enhancers	A549	lung
6	chr2:111765200-111765600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr2:111765200-111766200	Enhancers	HepG2	liver

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