Variant report

Variant	rs4490016
Chromosome Location	chr16:79731715-79731716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11150187	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11150189	0.82[EUR][1000 genomes]
rs11150190	0.85[EUR][1000 genomes]
rs11150191	0.82[EUR][1000 genomes]
rs11644082	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11644758	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11644799	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11645076	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11864901	0.81[EUR][1000 genomes]
rs12149234	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12449109	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12449161	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1424231	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16950997	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28773265	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4243177	0.88[CEU][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4888043	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4889009	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4889012	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4889014	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4889015	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56892402	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59617251	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6564688	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7187128	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7188445	0.81[EUR][1000 genomes]
rs7190187	0.81[EUR][1000 genomes]
rs7195321	0.81[EUR][1000 genomes]
rs7200841	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7202770	0.84[AMR][1000 genomes]
rs74037508	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74037509	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7500666	0.88[CEU][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8047723	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8048539	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8048928	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8053589	0.81[EUR][1000 genomes]
rs9927134	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4490016	RP11-345M22.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79720400-79736800	Weak transcription	Aorta	Aorta
2	chr16:79725200-79732200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:79725400-79731800	Weak transcription	NHLF	lung
4	chr16:79727800-79732400	Weak transcription	Fetal Heart	heart
5	chr16:79731000-79732600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:79731200-79732400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:79731200-79733400	Enhancers	NHDF-Ad	bronchial
8	chr16:79731400-79732600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:79731600-79732400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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