Variant report

Variant	rs17185705
Chromosome Location	chr14:25572989-25572990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10483294	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623931	0.89[ASN][1000 genomes]
rs11628356	0.90[ASN][1000 genomes]
rs17185453	1.00[YRI][hapmap]
rs17185509	0.92[JPT][hapmap]
rs17185593	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[ASN][1000 genomes]
rs17185677	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17185684	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17185691	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17185698	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17257668	0.84[GIH][hapmap]
rs17257752	0.92[JPT][hapmap]
rs17257808	0.94[ASN][1000 genomes]
rs17257836	0.93[ASN][1000 genomes]
rs17257871	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17257878	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17257885	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17257892	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1886054	0.92[JPT][hapmap]
rs1886055	0.84[GIH][hapmap]
rs1952504	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1958389	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2007289	0.89[ASN][1000 genomes]
rs58640442	0.83[ASN][1000 genomes]
rs60783613	0.81[ASN][1000 genomes]
rs61254962	0.93[ASN][1000 genomes]
rs61502598	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148029	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7159074	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74039209	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9743589	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3490801	chr14:25560793-25675699	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3490802	chr14:25560793-25675699	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17185705	RAB2B	cis	cerebellum	SCAN
rs17185705	ACIN1	cis	cerebellum	SCAN
rs17185705	RNASE6	cis	parietal	SCAN
rs17185705	REC8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25566600-25573400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:25571600-25574600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:25572000-25573400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:25572200-25573000	Enhancers	HepG2	liver
5	chr14:25572200-25573200	Enhancers	Fetal Lung	lung
6	chr14:25572400-25573000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr14:25572400-25573200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:25572400-25573400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:25572600-25574400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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