Variant report

Variant	rs4151047
Chromosome Location	chr11:36600516-36600517
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36600352..36602447-chr11:36604376..36607300,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10219403	0.91[AFR][1000 genomes]
rs11033700	1.00[AMR][1000 genomes]
rs11033701	1.00[AMR][1000 genomes]
rs11033702	1.00[AMR][1000 genomes]
rs11033704	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033705	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033726	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033738	0.91[YRI][hapmap]
rs11033740	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033754	1.00[AMR][1000 genomes]
rs11820706	1.00[AMR][1000 genomes]
rs11824427	1.00[AMR][1000 genomes]
rs11825620	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828016	0.87[LWK][hapmap];1.00[AMR][1000 genomes]
rs12271060	0.87[LWK][hapmap];1.00[AMR][1000 genomes]
rs12271149	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271279	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271312	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272928	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273684	1.00[AMR][1000 genomes]
rs12273796	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274228	0.87[MKK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs12274720	1.00[AMR][1000 genomes]
rs12276673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277745	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279639	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280515	0.87[LWK][hapmap];1.00[AMR][1000 genomes]
rs12280564	0.87[LWK][hapmap];1.00[AMR][1000 genomes]
rs12281063	0.82[ASW][hapmap];0.91[YRI][hapmap]
rs12283026	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286152	1.00[AMR][1000 genomes]
rs13377317	0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16929080	1.00[AMR][1000 genomes]
rs16929093	0.87[LWK][hapmap];1.00[AMR][1000 genomes]
rs35211174	1.00[AMR][1000 genomes]
rs4150999	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4151001	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs4151011	1.00[AMR][1000 genomes]
rs4151030	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57273606	1.00[AMR][1000 genomes]
rs7119565	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971624	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4151047	RAG1	cis	multi-tissue	Pritchard
rs4151047	C11orf74	cis	lymphoblastoid	seeQTL
rs4151047	LOC119710	cis	multi-tissue	Pritchard
rs4151047	C11orf74	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36589800-36600800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:36593200-36600800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
3	chr11:36596400-36602400	Weak transcription	Pancreas	Pancrea
4	chr11:36596600-36603000	Weak transcription	Left Ventricle	heart
5	chr11:36597000-36602600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:36598000-36600800	Enhancers	Fetal Heart	heart
7	chr11:36598600-36600600	Enhancers	HSMMtube	muscle
8	chr11:36598600-36600600	Enhancers	NH-A	brain
9	chr11:36598800-36600600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:36598800-36600600	Enhancers	Rectal Smooth Muscle	rectum
11	chr11:36598800-36600600	Enhancers	HSMM	muscle
12	chr11:36599200-36600600	Enhancers	Osteobl	bone
13	chr11:36599600-36600600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:36599800-36600600	Active TSS	Thymus	Thymus
15	chr11:36600400-36600600	Enhancers	Aorta	Aorta

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