Variant report

Variant	rs10503419
Chromosome Location	chr8:11126800-11126801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11250125	0.82[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11986879	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11990279	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11990306	0.86[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11992965	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11994225	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11996245	0.82[ASW][hapmap];0.82[CEU][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11996437	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11997943	0.82[ASW][hapmap];0.82[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17728678	0.82[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17728696	0.82[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17796046	0.82[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17796070	0.82[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2082775	0.91[GIH][hapmap]
rs56071200	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56246833	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73205327	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73205329	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73205330	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73205332	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73205333	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73205334	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73205336	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73205339	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73205340	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73205341	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs956669	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10503419	FAM167A	cis	parietal	SCAN
rs10503419	FLJ10661	cis	cerebellum	SCAN
rs10503419	CTSB	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11116800-11131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:11122800-11132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11126600-11126800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr8:11126800-11127800	Enhancers	Primary B cells from peripheral blood	blood

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