Variant report

Variant	rs72722861
Chromosome Location	chr15:31704288-31704289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1075232	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12437749	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12437800	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12438318	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12438813	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12439239	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12439853	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16956707	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16956738	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34959140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4450360	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56249651	0.85[ASN][1000 genomes]
rs56396205	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57924788	0.87[ASN][1000 genomes]
rs58156651	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs66581165	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67216354	0.85[ASN][1000 genomes]
rs67634762	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67699697	0.85[ASN][1000 genomes]
rs72722829	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72722847	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72724938	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72724958	0.87[ASN][1000 genomes]
rs9672214	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9672538	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv903843	chr15:31672947-31723279	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs72722861	CHRNA7	cis	lung	GTEx
rs72722861	RP11-932O9.9	cis	Esophagus Muscularis	GTEx
rs72722861	GOLGA8R	cis	Adipose Subcutaneous	GTEx
rs72722861	CHRNA7	cis	Thyroid	GTEx
rs72722861	RP11-932O9.7	cis	lung	GTEx
rs72722861	GOLGA8R	cis	Heart Left Ventricle	GTEx
rs72722861	CHRNA7	cis	Whole Blood	GTEx
rs72722861	CHRNA7	cis	Artery Tibial	GTEx
rs72722861	GOLGA8R	cis	Artery Tibial	GTEx
rs72722861	RP11-932O9.7	cis	Artery Tibial	GTEx
rs72722861	CTD-3092A11.2	cis	Whole Blood	GTEx
rs72722861	CTD-3092A11.2	cis	lung	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31702200-31705800	Enhancers	NHEK	skin
2	chr15:31703400-31704400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:31704200-31704400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:31704200-31705400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:31704200-31705600	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links