Variant report

Variant	rs7497273
Chromosome Location	chr15:54442639-54442640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11632968	0.94[ASN][1000 genomes]
rs12915784	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12915939	0.90[ASN][1000 genomes]
rs12917127	0.87[ASN][1000 genomes]
rs16974155	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16974182	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16974217	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1814348	0.81[EUR][1000 genomes]
rs1864417	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1864420	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1897055	0.81[EUR][1000 genomes]
rs1897058	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1897059	0.82[EUR][1000 genomes]
rs1897061	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1897064	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2082115	0.87[ASN][1000 genomes]
rs2099174	0.87[ASN][1000 genomes]
rs2115832	0.83[EUR][1000 genomes]
rs2115833	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2163200	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2414265	0.82[EUR][1000 genomes]
rs28547261	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2899524	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35055717	0.87[ASN][1000 genomes]
rs4550401	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58017453	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59028070	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62009989	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62009990	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7164107	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7166833	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7174427	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8039423	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052235	chr15:53677524-54618723	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542388	chr15:53677524-54618723	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv904226	chr15:53883244-54458310	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv457144	chr15:53890362-54455757	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv569440	chr15:53890362-54455757	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv569441	chr15:53890362-54456754	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv457145	chr15:53890393-54456754	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv569442	chr15:53890393-54456754	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv817539	chr15:54132584-55095235	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv428637	chr15:54279125-54500755	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1048374	chr15:54354984-54484623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1043666	chr15:54415970-54548495	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1041282	chr15:54436686-54476135	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7497273	RSL24D1	cis	cerebellum	SCAN
rs7497273	SLC24A5	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54432200-54451200	Weak transcription	Fetal Lung	lung
2	chr15:54440800-54443800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:54441000-54443200	Enhancers	NH-A	brain
4	chr15:54441200-54443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:54441800-54453200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:54442000-54442800	Enhancers	Primary hematopoietic stem cells	blood
7	chr15:54442000-54442800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr15:54442000-54443800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:54442400-54442800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:54442400-54442800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:54442600-54442800	Enhancers	Aorta	Aorta
12	chr15:54442600-54443000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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