Variant report

Variant	rs692391
Chromosome Location	chr15:50037188-50037189
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1059851	0.91[CEU][hapmap]
rs1059852	0.91[CEU][hapmap];0.81[TSI][hapmap]
rs11630021	0.86[CEU][hapmap]
rs11632077	0.91[CEU][hapmap]
rs11632116	0.91[CEU][hapmap]
rs11633343	0.91[CEU][hapmap];0.86[TSI][hapmap]
rs11633714	0.90[CEU][hapmap];0.83[TSI][hapmap]
rs11633744	0.91[CEU][hapmap];0.81[TSI][hapmap]
rs11633759	0.86[CEU][hapmap]
rs12902979	0.86[EUR][1000 genomes]
rs12903481	0.81[EUR][1000 genomes]
rs12907836	0.85[CEU][hapmap]
rs13329598	0.85[CEU][hapmap]
rs16962999	0.82[CEU][hapmap]
rs17486097	0.91[CEU][hapmap]
rs17486425	0.90[CEU][hapmap]
rs17486446	0.91[CEU][hapmap];0.86[TSI][hapmap]
rs2414013	0.94[ASN][1000 genomes]
rs2444049	0.89[ASN][1000 genomes]
rs2449860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2449861	0.84[ASN][1000 genomes]
rs2452528	0.89[ASN][1000 genomes]
rs2456844	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2456845	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4347574	0.91[CEU][hapmap]
rs4494482	0.91[CEU][hapmap]
rs4494483	0.91[CEU][hapmap]
rs4544192	0.91[CEU][hapmap]
rs500721	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs504287	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs514103	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs515764	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs516375	0.92[ASN][1000 genomes]
rs517523	0.89[ASN][1000 genomes]
rs554725	0.86[ASN][1000 genomes]
rs56711987	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6493383	0.82[CEU][hapmap]
rs686620	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs691215	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs691741	0.92[ASN][1000 genomes]
rs691852	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs692106	0.81[ASN][1000 genomes]
rs692531	0.92[ASN][1000 genomes]
rs7170482	0.82[CEU][hapmap]
rs8025533	0.91[CEU][hapmap];0.86[TSI][hapmap]
rs8036570	0.86[CEU][hapmap]
rs8038434	0.82[CEU][hapmap]
rs8041979	0.86[CEU][hapmap]
rs8042458	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs692391	CATSPER2P1	cis	cerebellum	SCAN
rs692391	C15orf48	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50034000-50039000	Weak transcription	K562	blood

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