Variant report

Variant	rs1752812
Chromosome Location	chr13:62868719-62868720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17061126	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1887693	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs191071	0.86[EUR][1000 genomes]
rs308535	0.86[EUR][1000 genomes]
rs308573	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs308575	0.87[EUR][1000 genomes]
rs308603	0.85[EUR][1000 genomes]
rs308621	0.84[EUR][1000 genomes]
rs308626	0.84[EUR][1000 genomes]
rs308632	0.84[EUR][1000 genomes]
rs3118813	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3118815	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3118820	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3118821	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3118822	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3118826	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3118828	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3118829	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3118830	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3128050	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3128052	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3128056	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4334178	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs442612	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs443368	0.82[ASN][1000 genomes]
rs4491382	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs728545	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948810	chr13:62003256-62968196	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv900257	chr13:62782367-62907090	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv561893	chr13:62807570-62885877	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
4	nsv1038992	chr13:62827929-63369497	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541795	chr13:62827929-63369497	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1038215	chr13:62836702-63405446	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1752812	CAST	trans	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62867800-62870600	Weak transcription	GM12878-XiMat	blood
2	chr13:62868400-62868800	Enhancers	Hela-S3	cervix
3	chr13:62868600-62869000	Enhancers	Muscle Satellite Cultured Cells	--

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