Variant report

Variant	rs13242762
Chromosome Location	chr7:15437962-15437963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10270169	0.85[ASN][1000 genomes]
rs10270258	0.85[ASN][1000 genomes]
rs12699710	0.92[AFR][1000 genomes]
rs12699711	0.86[ASN][1000 genomes]
rs12699712	0.95[ASN][1000 genomes]
rs13221912	0.95[ASN][1000 genomes]
rs13234664	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13234866	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13241910	1.00[JPT][hapmap]
rs13242014	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13247611	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34935295	0.91[ASN][1000 genomes]
rs35049920	0.91[ASN][1000 genomes]
rs35101265	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35127386	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35242791	0.98[ASN][1000 genomes]
rs35459650	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4256501	0.82[AFR][1000 genomes]
rs4431490	0.87[AFR][1000 genomes]
rs4604326	0.95[ASN][1000 genomes]
rs4613874	0.91[ASN][1000 genomes]
rs55821612	0.82[ASN][1000 genomes]
rs56343373	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62439261	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62439264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62439265	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62439271	0.87[ASN][1000 genomes]
rs62441409	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66518669	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6942879	0.85[ASN][1000 genomes]
rs6960653	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032569	chr7:14905287-15597069	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1021172	chr7:14944318-15548794	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538743	chr7:14944318-15548794	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1028314	chr7:15336831-15555412	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1032866	chr7:15336831-15622515	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1033428	chr7:15343210-15554763	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1023086	chr7:15368522-15554763	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538746	chr7:15368522-15554763	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv606295	chr7:15397449-15547950	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv437537	chr7:15413574-15442630	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1031116	chr7:15428343-15568587	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13242762	PRPS1L1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15437400-15438200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:15437600-15438000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:15437600-15438000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:15437800-15439600	Enhancers	NHDF-Ad	bronchial

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