Variant report

Variant	rs385563
Chromosome Location	chr19:40217794-40217795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1034995	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10402500	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10406233	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10407799	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10409161	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10422830	0.92[EUR][1000 genomes]
rs11666249	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11879717	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11882595	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12979857	0.93[EUR][1000 genomes]
rs1972537	1.00[GIH][hapmap]
rs1990235	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2108686	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs34877480	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35541195	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs375688	0.91[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs389708	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs390406	0.91[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs395969	0.83[AMR][1000 genomes]
rs403831	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs410034	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs412211	0.91[CEU][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs413216	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs420297	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs57954673	0.97[EUR][1000 genomes]
rs58029135	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71356865	0.92[EUR][1000 genomes]
rs71356870	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7248035	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7253554	0.97[EUR][1000 genomes]
rs7254020	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8101919	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs886993	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057361	chr19:40123868-40310996	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1061361	chr19:40131820-40310996	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv579511	chr19:40132825-40310497	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1062394	chr19:40133229-40310186	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv544004	chr19:40133229-40310186	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1059691	chr19:40168862-40306373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv544005	chr19:40168862-40306373	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3332670	chr19:40181720-40297955	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv911695	chr19:40217794-40235008	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs385563	C19orf54	cis	cerebellum	SCAN
rs385563	CEACAM1	cis	cerebellum	SCAN
rs385563	ITPKC	cis	cerebellum	SCAN
rs385563	APOC4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40217200-40219200	Enhancers	Placenta	Placenta
2	chr19:40217400-40217800	Flanking Active TSS	GM12878-XiMat	blood

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