Variant report

Variant	rs4938776
Chromosome Location	chr11:119956631-119956632
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1073634	0.86[ASN][1000 genomes]
rs1073636	0.86[ASN][1000 genomes]
rs10892536	0.95[ASN][1000 genomes]
rs10892538	0.88[ASN][1000 genomes]
rs10892542	0.85[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1110704	0.86[ASN][1000 genomes]
rs11217677	0.84[ASN][1000 genomes]
rs11217678	0.91[ASN][1000 genomes]
rs11217679	0.95[ASN][1000 genomes]
rs11217683	0.95[ASN][1000 genomes]
rs11217684	0.95[ASN][1000 genomes]
rs11217685	0.91[ASN][1000 genomes]
rs11217690	0.95[ASN][1000 genomes]
rs11217691	0.87[ASN][1000 genomes]
rs11217692	0.86[ASN][1000 genomes]
rs11217693	0.83[ASN][1000 genomes]
rs11217694	0.86[ASN][1000 genomes]
rs11217696	0.86[ASN][1000 genomes]
rs11217697	0.84[ASN][1000 genomes]
rs11604169	0.86[ASN][1000 genomes]
rs12417601	0.88[ASN][1000 genomes]
rs12418174	0.95[ASN][1000 genomes]
rs12418635	0.96[ASN][1000 genomes]
rs12419706	0.91[ASN][1000 genomes]
rs12421654	0.88[ASN][1000 genomes]
rs2276159	0.86[ASN][1000 genomes]
rs2368961	0.90[ASN][1000 genomes]
rs3895896	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3896312	0.95[ASN][1000 genomes]
rs3915646	1.00[ASN][1000 genomes]
rs3915715	0.97[EUR][1000 genomes]
rs4938778	0.95[ASN][1000 genomes]
rs4938779	0.97[EUR][1000 genomes]
rs57144901	0.86[ASN][1000 genomes]
rs58043425	0.86[ASN][1000 genomes]
rs60480291	0.97[EUR][1000 genomes]
rs61897956	0.97[EUR][1000 genomes]
rs61897958	0.97[EUR][1000 genomes]
rs61897959	0.97[EUR][1000 genomes]
rs6589795	0.91[ASN][1000 genomes]
rs6589798	0.84[ASN][1000 genomes]
rs6589800	0.86[ASN][1000 genomes]
rs6589801	0.86[ASN][1000 genomes]
rs7109733	1.00[ASN][1000 genomes]
rs7111010	0.91[EUR][1000 genomes]
rs7118773	0.96[ASN][1000 genomes]
rs7131339	0.90[ASN][1000 genomes]
rs7929336	0.97[EUR][1000 genomes]
rs7937779	0.97[EUR][1000 genomes]
rs7938843	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv11932	chr11:119950867-119956926	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
6	nsv821369	chr11:119950867-119956926	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
7	esv1792150	chr11:119951539-119956750	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
8	esv1813665	chr11:119951923-119956750	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
9	esv1828665	chr11:119951923-119956750	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
10	esv1806861	chr11:119952298-119956750	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
11	esv1829641	chr11:119952298-119956750	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
12	esv1795101	chr11:119952815-119956750	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4938776	FXYD2	cis	parietal	SCAN
rs4938776	NGF	trans	cerebellum	SCAN
rs4938776	POU2F3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119955400-119961000	Weak transcription	Esophagus	oesophagus
2	chr11:119956200-119957200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:119956400-119959200	Enhancers	Brain Angular Gyrus	brain
4	chr11:119956400-119959400	Enhancers	Brain Anterior Caudate	brain
5	chr11:119956400-119959400	Enhancers	Brain Hippocampus Middle	brain
6	chr11:119956400-119959400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:119956400-119959400	Enhancers	Brain Substantia Nigra	brain
8	chr11:119956400-119959800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:119956400-119962800	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:119956600-119957600	Enhancers	Fetal Brain Male	brain

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