Variant report

Variant	rs11211387
Chromosome Location	chr1:47323322-47323323
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11211369	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211386	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1122582	0.88[EUR][1000 genomes]
rs11576162	0.87[EUR][1000 genomes]
rs11583378	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11583922	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11584320	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11584834	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11586184	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12402717	0.87[EUR][1000 genomes]
rs12410657	0.86[EUR][1000 genomes]
rs12566735	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12569216	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1572603	0.81[EUR][1000 genomes]
rs1890246	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1890248	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1890249	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2185032	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3766196	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3863632	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4417002	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4646486	0.86[EUR][1000 genomes]
rs4646492	0.87[EUR][1000 genomes]
rs4660960	0.89[EUR][1000 genomes]
rs55868139	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55936777	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60430993	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61741519	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67678353	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72637963	0.86[EUR][1000 genomes]
rs72681939	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7553652	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9728536	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv525401	chr1:47318400-47329647	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47322600-47324000	Enhancers	NHEK	skin
2	chr1:47323000-47323400	Enhancers	HUVEC	blood vessel
3	chr1:47323000-47323600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:47323000-47323600	Enhancers	HMEC	breast
5	chr1:47323000-47324000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:47323000-47324000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:47323200-47323600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:47323200-47323800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:47323200-47324000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:47323200-47324400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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