Variant report

Variant	rs12571514
Chromosome Location	chr10:90496509-90496510
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10887850	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10887852	0.82[ASN][1000 genomes]
rs11202826	0.87[ASN][1000 genomes]
rs1228187	0.81[JPT][hapmap]
rs1236939	0.81[ASN][1000 genomes]
rs12570840	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12765161	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1653834	0.84[ASN][1000 genomes]
rs1653835	0.84[ASN][1000 genomes]
rs1769695	0.84[ASN][1000 genomes]
rs1769696	0.84[ASN][1000 genomes]
rs1769698	0.84[ASN][1000 genomes]
rs1769699	0.84[ASN][1000 genomes]
rs1769701	0.84[ASN][1000 genomes]
rs184228	0.81[ASN][1000 genomes]
rs2053006	0.84[ASN][1000 genomes]
rs2604963	0.81[ASN][1000 genomes]
rs2604966	0.81[ASN][1000 genomes]
rs2776656	0.83[ASN][1000 genomes]
rs2776657	0.81[ASN][1000 genomes]
rs2776658	0.81[ASN][1000 genomes]
rs2790695	0.81[ASN][1000 genomes]
rs2790696	0.81[ASN][1000 genomes]
rs2790697	0.81[ASN][1000 genomes]
rs2790702	0.84[ASN][1000 genomes]
rs303452	0.81[ASN][1000 genomes]
rs303455	0.81[ASN][1000 genomes]
rs303458	0.81[ASN][1000 genomes]
rs303459	0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs303460	0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs303461	0.81[ASN][1000 genomes]
rs303462	0.81[ASN][1000 genomes]
rs303465	0.81[ASN][1000 genomes]
rs364303	0.81[ASN][1000 genomes]
rs365263	0.83[ASN][1000 genomes]
rs372178	0.81[ASN][1000 genomes]
rs375790	0.81[ASN][1000 genomes]
rs375842	0.81[ASN][1000 genomes]
rs376264	0.83[ASN][1000 genomes]
rs377423	0.81[ASN][1000 genomes]
rs377776	0.81[ASN][1000 genomes]
rs381424	0.81[ASN][1000 genomes]
rs381963	0.84[ASN][1000 genomes]
rs382221	0.81[ASN][1000 genomes]
rs383115	0.81[ASN][1000 genomes]
rs3858282	0.82[JPT][hapmap]
rs386101	0.83[ASN][1000 genomes]
rs389728	0.83[ASN][1000 genomes]
rs390152	0.83[ASN][1000 genomes]
rs390400	0.81[ASN][1000 genomes]
rs391260	0.84[ASN][1000 genomes]
rs391722	0.81[ASN][1000 genomes]
rs392430	0.81[ASN][1000 genomes]
rs395231	0.84[ASN][1000 genomes]
rs396952	0.83[ASN][1000 genomes]
rs400659	0.81[ASN][1000 genomes]
rs403572	0.84[ASN][1000 genomes]
rs405147	0.84[ASN][1000 genomes]
rs405635	0.81[ASN][1000 genomes]
rs405854	0.84[ASN][1000 genomes]
rs406671	0.84[ASN][1000 genomes]
rs408922	0.81[ASN][1000 genomes]
rs409079	0.84[ASN][1000 genomes]
rs410713	0.81[ASN][1000 genomes]
rs411713	0.83[ASN][1000 genomes]
rs412227	0.81[ASN][1000 genomes]
rs416301	0.83[ASN][1000 genomes]
rs419014	0.84[ASN][1000 genomes]
rs419049	0.83[ASN][1000 genomes]
rs419912	0.81[ASN][1000 genomes]
rs427541	0.83[ASN][1000 genomes]
rs427720	0.83[ASN][1000 genomes]
rs428425	0.81[ASN][1000 genomes]
rs431003	0.81[ASN][1000 genomes]
rs432202	0.83[ASN][1000 genomes]
rs434028	0.84[ASN][1000 genomes]
rs434133	0.81[ASN][1000 genomes]
rs435159	0.84[ASN][1000 genomes]
rs436833	0.81[ASN][1000 genomes]
rs436861	0.81[ASN][1000 genomes]
rs438177	0.80[ASN][1000 genomes]
rs440103	0.84[ASN][1000 genomes]
rs442466	0.84[ASN][1000 genomes]
rs443886	0.84[ASN][1000 genomes]
rs444676	0.83[ASN][1000 genomes]
rs444764	0.84[ASN][1000 genomes]
rs447651	0.84[ASN][1000 genomes]
rs450252	0.83[ASN][1000 genomes]
rs452283	0.81[ASN][1000 genomes]
rs515333	0.83[ASN][1000 genomes]
rs529258	0.81[ASN][1000 genomes]
rs566053	0.81[ASN][1000 genomes]
rs61853999	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7913071	0.80[JPT][hapmap]
rs814620	0.81[JPT][hapmap]
rs962636	0.82[ASN][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	nsv948664	chr10:90076715-90517150	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv430254	chr10:90265420-90500520	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831941	chr10:90410488-90587332	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS 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	66 gene(s)	inside rSNPs	diseases
7	nsv1043015	chr10:90467067-90593692	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv467415	chr10:90478483-90600865	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv551840	chr10:90478483-90600865	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12571514	PAPSS2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90495600-90514000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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