Variant report

Variant	rs2264306
Chromosome Location	chr8:11388449-11388450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10108511	1.00[CHB][hapmap]
rs1042701	1.00[CHB][hapmap]
rs11250146	1.00[CHB][hapmap]
rs11775779	1.00[CHB][hapmap]
rs11776834	1.00[CHB][hapmap]
rs11777273	1.00[CHB][hapmap]
rs11780980	1.00[CHB][hapmap]
rs11781400	1.00[CHB][hapmap]
rs11784016	1.00[CHB][hapmap]
rs12156238	1.00[CHB][hapmap]
rs12548884	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272061	1.00[CHB][hapmap]
rs13439415	1.00[CHB][hapmap]
rs1382567	1.00[CHB][hapmap]
rs1478890	1.00[CHB][hapmap]
rs1478897	0.82[YRI][hapmap]
rs1478898	0.88[AFR][1000 genomes]
rs17744726	1.00[CHB][hapmap]
rs2061830	0.81[YRI][hapmap]
rs2127127	1.00[CHB][hapmap]
rs2245232	1.00[CHB][hapmap];0.86[AFR][1000 genomes]
rs2248316	0.82[AFR][1000 genomes]
rs2248325	0.84[AFR][1000 genomes]
rs2248699	0.85[AFR][1000 genomes]
rs2249260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252797	0.96[YRI][hapmap]
rs2264866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409784	1.00[CHB][hapmap]
rs2409798	1.00[CHB][hapmap]
rs2467520	0.84[AFR][1000 genomes]
rs2618434	1.00[CHB][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs2618443	0.81[ASW][hapmap];0.88[LWK][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs2618445	0.91[YRI][hapmap]
rs2736342	1.00[CHB][hapmap]
rs4606022	1.00[CHB][hapmap]
rs4840567	1.00[CHB][hapmap]
rs4841545	1.00[CHB][hapmap]
rs4841548	1.00[CHB][hapmap]
rs4841567	1.00[CHB][hapmap]
rs6999912	1.00[CHB][hapmap]
rs7464263	1.00[CHB][hapmap]
rs7822109	1.00[CHB][hapmap]
rs7831885	1.00[CHB][hapmap]

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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2264306	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs2264306	CLDN23	cis	parietal	SCAN
rs2264306	TDH	cis	cerebellum	SCAN
rs2264306	FLJ10661	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11385400-11388600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
3	chr8:11385800-11388600	ZNF genes & repeats	Primary B cells from cord blood	blood
4	chr8:11386400-11390600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:11386600-11390400	Weak transcription	Fetal Thymus	thymus
6	chr8:11388000-11389400	Flanking Active TSS	GM12878-XiMat	blood
7	chr8:11388400-11388600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:11388400-11389600	Enhancers	HSMM	muscle

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