Variant report

Variant	rs10494291
Chromosome Location	chr1:153182291-153182292
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153180875..153183412-chr1:153183535..153185294,2	K562	blood:
2	chr1:153173488..153175409-chr1:153180710..153182870,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10159119	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10494292	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494293	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10494294	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10494295	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10494297	0.80[EUR][1000 genomes]
rs10788862	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10888536	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10888537	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10888538	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10888539	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205222	0.84[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205223	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205225	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205227	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205228	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205229	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205231	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205232	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11205238	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11205248	0.82[EUR][1000 genomes]
rs11583156	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11583609	0.80[EUR][1000 genomes]
rs11589914	0.83[CEU][hapmap]
rs12043009	0.83[CEU][hapmap]
rs12058098	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12069007	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12122588	0.96[EUR][1000 genomes]
rs12127862	1.00[CEU][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12134915	0.96[EUR][1000 genomes]
rs12136409	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12142970	0.80[EUR][1000 genomes]
rs12740666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12747804	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12755266	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1329094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1329099	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1329100	0.95[EUR][1000 genomes]
rs1410859	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16835073	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16835081	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16835083	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16835093	1.00[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs34119886	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35287517	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35358388	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71626758	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7538295	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv1004168	chr1:153088209-153226033	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1013041	chr1:153105260-153223716	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10494291	RPTN	cis	cerebellum	SCAN
rs10494291	FDPS	cis	cerebellum	SCAN
rs10494291	VPS72	cis	cerebellum	SCAN
rs10494291	HIST2H2AC	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153182000-153182800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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