Variant report

Variant	rs1169353
Chromosome Location	chr13:86461429-86461430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1330037	0.84[ASN][1000 genomes]
rs1330038	0.84[ASN][1000 genomes]
rs1330039	0.84[ASN][1000 genomes]
rs1330040	0.84[ASN][1000 genomes]
rs1330041	0.81[ASN][1000 genomes]
rs1981163	0.83[ASN][1000 genomes]
rs1981164	0.83[ASN][1000 genomes]
rs4294705	0.84[ASN][1000 genomes]
rs4294706	0.84[ASN][1000 genomes]
rs7335712	0.84[ASN][1000 genomes]
rs9285339	0.84[ASN][1000 genomes]
rs9531848	0.81[ASN][1000 genomes]
rs9531849	0.83[ASN][1000 genomes]
rs9531858	0.84[ASN][1000 genomes]
rs9531859	0.84[ASN][1000 genomes]
rs9531861	0.84[ASN][1000 genomes]
rs9531862	0.84[ASN][1000 genomes]
rs9531863	0.84[ASN][1000 genomes]
rs9531865	0.83[ASN][1000 genomes]
rs9547386	0.83[ASN][1000 genomes]
rs9547388	0.83[ASN][1000 genomes]
rs9547389	0.83[ASN][1000 genomes]
rs9547390	0.83[ASN][1000 genomes]
rs9547399	0.82[ASN][1000 genomes]
rs9547401	0.84[ASN][1000 genomes]
rs9547402	0.84[ASN][1000 genomes]
rs9547403	0.84[ASN][1000 genomes]
rs9547404	0.84[ASN][1000 genomes]
rs9547405	0.84[ASN][1000 genomes]
rs9547406	0.84[ASN][1000 genomes]
rs9547407	0.84[ASN][1000 genomes]
rs9547408	0.84[ASN][1000 genomes]
rs9547409	0.84[ASN][1000 genomes]
rs9547427	0.87[ASN][1000 genomes]
rs9547428	0.87[ASN][1000 genomes]
rs9566110	0.84[ASN][1000 genomes]
rs9566111	0.92[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	nsv900734	chr13:86415632-86911159	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv900735	chr13:86426757-86545903	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv900736	chr13:86429834-86529275	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv900737	chr13:86429834-86639464	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv456053	chr13:86448054-86551371	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv562610	chr13:86448054-86551371	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1050020	chr13:86449037-86499673	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv900738	chr13:86449302-86628241	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv900739	chr13:86449302-86736910	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv900740	chr13:86449302-86911159	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv900741	chr13:86461429-86959695	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1169353	RECQL	trans	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86461400-86462000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:86461400-86462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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