Variant report

Variant	rs2444253
Chromosome Location	chr11:84800038-84800039
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10792795	0.82[YRI][hapmap]
rs10898339	0.83[CHB][hapmap]
rs10898341	0.83[YRI][hapmap]
rs11234253	0.83[CHB][hapmap]
rs11234262	0.87[YRI][hapmap]
rs11234263	0.86[YRI][hapmap]
rs1532312	0.86[YRI][hapmap]
rs17741917	0.83[CHB][hapmap]
rs2508322	0.96[CEU][hapmap];0.81[YRI][hapmap]
rs349060	0.83[AFR][1000 genomes]
rs349062	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs349063	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs349068	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs349069	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[YRI][hapmap]
rs349078	0.88[CHB][hapmap];0.82[YRI][hapmap]
rs349080	0.89[CHB][hapmap]
rs349082	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs349083	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs349084	0.83[CHB][hapmap]
rs349086	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs349088	0.89[YRI][hapmap]
rs3851173	0.83[CHB][hapmap]
rs3851174	0.84[YRI][hapmap]
rs3907015	0.82[YRI][hapmap]
rs3911270	0.83[CHB][hapmap]
rs3933734	0.83[CHB][hapmap]
rs4121472	0.84[CHB][hapmap]
rs4121473	0.84[CHB][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap]
rs4271408	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[YRI][hapmap]
rs4944509	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs506422	0.95[CEU][hapmap];0.84[CHB][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs550970	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs565044	0.91[CEU][hapmap];0.84[AMR][1000 genomes]
rs573767	0.96[CEU][hapmap];0.90[YRI][hapmap]
rs582399	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs613972	0.83[CHB][hapmap];0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs616320	0.83[CHB][hapmap];0.87[YRI][hapmap]
rs619848	0.88[CHB][hapmap];0.81[YRI][hapmap]
rs630015	0.87[YRI][hapmap]
rs633703	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs634050	0.96[CEU][hapmap];0.83[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs635860	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs652852	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs653885	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs6592223	0.81[YRI][hapmap]
rs6592229	0.83[YRI][hapmap]
rs7111336	0.81[YRI][hapmap]
rs7112064	0.84[YRI][hapmap]
rs7125600	0.83[YRI][hapmap]
rs7131501	0.89[CHB][hapmap];0.86[YRI][hapmap]
rs7482922	0.86[YRI][hapmap]
rs7925898	0.84[CHB][hapmap]
rs7929647	0.81[YRI][hapmap]
rs7931733	0.88[YRI][hapmap]
rs7943194	0.83[CHB][hapmap]
rs7949547	0.83[CHB][hapmap]

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	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv430415	chr11:84661652-84833852	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1055097	chr11:84672444-84810441	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1040393	chr11:84708402-84866594	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv527535	chr11:84724795-84895033	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv528491	chr11:84724795-84895033	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84797600-84800200	Enhancers	NHLF	lung
2	chr11:84798600-84801400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:84799000-84801800	Weak transcription	NHEK	skin
4	chr11:84799600-84801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:84800000-84802400	Enhancers	Primary B cells from peripheral blood	blood

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