Variant report

Variant	rs66581165
Chromosome Location	chr15:31743767-31743768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1075232	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858516	0.81[ASN][1000 genomes]
rs12437749	0.84[AMR][1000 genomes]
rs12437800	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12438318	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12438813	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12439239	0.84[AMR][1000 genomes]
rs12439853	0.84[AMR][1000 genomes]
rs12440108	0.82[ASN][1000 genomes]
rs12441163	0.82[ASN][1000 genomes]
rs16956707	0.84[AMR][1000 genomes]
rs16956738	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16956797	0.82[ASN][1000 genomes]
rs16956801	0.82[ASN][1000 genomes]
rs34959140	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4450360	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56249651	0.98[ASN][1000 genomes]
rs56396205	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57491435	0.82[ASN][1000 genomes]
rs57924788	1.00[ASN][1000 genomes]
rs58156651	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67216354	0.98[ASN][1000 genomes]
rs67634762	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67699697	0.98[ASN][1000 genomes]
rs7166243	0.82[ASN][1000 genomes]
rs72722829	0.84[AMR][1000 genomes]
rs72722847	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72722861	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72724938	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72724958	1.00[ASN][1000 genomes]
rs72724993	0.82[ASN][1000 genomes]
rs72724997	0.82[ASN][1000 genomes]
rs9672214	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9672538	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1051589	chr15:31728004-31972706	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv542320	chr15:31728004-31972706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv469633	chr15:31731003-31904613	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv482330	chr15:31731003-31904613	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv903844	chr15:31736091-31781988	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1046271	chr15:31741255-31795961	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs66581165	CHRNA7	cis	Whole Blood	GTEx
rs66581165	CHRNA7	cis	lung	GTEx
rs66581165	CHRNA7	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31734400-31750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:31741400-31743800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:31741400-31744200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr15:31741400-31747800	Weak transcription	GM12878-XiMat	blood
5	chr15:31741400-31749400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:31741800-31744800	Weak transcription	Liver	Liver
7	chr15:31743600-31743800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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