Variant report

Variant	rs4840567
Chromosome Location	chr8:11347625-11347626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr8:11347092-11347850	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10108511	1.00[CHB][hapmap]
rs1042701	1.00[CHB][hapmap]
rs11250140	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250146	1.00[CHB][hapmap]
rs11775149	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775150	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775779	1.00[CHB][hapmap]
rs11776834	1.00[CHB][hapmap]
rs11777273	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11780851	1.00[ASN][1000 genomes]
rs11780980	1.00[CHB][hapmap]
rs11781400	1.00[CHB][hapmap]
rs11784016	1.00[CHB][hapmap]
rs12155745	1.00[ASN][1000 genomes]
rs12156238	1.00[CHB][hapmap]
rs12386974	1.00[ASN][1000 genomes]
rs13272061	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13275864	1.00[ASN][1000 genomes]
rs13439415	1.00[CHB][hapmap]
rs1382567	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478890	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478898	1.00[ASN][1000 genomes]
rs1531576	0.83[EUR][1000 genomes]
rs1600250	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600252	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744726	1.00[CHB][hapmap]
rs17799486	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061830	1.00[ASN][1000 genomes]
rs2127127	1.00[CHB][hapmap]
rs2199690	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245232	1.00[CHB][hapmap]
rs2245250	1.00[ASN][1000 genomes]
rs2245357	1.00[ASN][1000 genomes]
rs2248315	1.00[ASN][1000 genomes]
rs2248316	1.00[ASN][1000 genomes]
rs2248325	1.00[ASN][1000 genomes]
rs2264306	1.00[CHB][hapmap]
rs2264866	1.00[CHB][hapmap]
rs2409784	1.00[CHB][hapmap]
rs2409798	1.00[CHB][hapmap]
rs2467520	1.00[ASN][1000 genomes]
rs2618434	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2736342	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35986297	1.00[ASN][1000 genomes]
rs4410870	1.00[CHB][hapmap]
rs4606022	1.00[CHB][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap]
rs4841545	1.00[CHB][hapmap]
rs4841548	1.00[CHB][hapmap]
rs4841567	1.00[CHB][hapmap]
rs4841569	1.00[ASN][1000 genomes]
rs55860742	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601599	1.00[ASN][1000 genomes]
rs67390008	0.80[AFR][1000 genomes]
rs6983727	0.81[MEX][hapmap]
rs6999912	1.00[CHB][hapmap]
rs7464263	1.00[CHB][hapmap]
rs756038	0.83[EUR][1000 genomes]
rs7822109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822958	0.81[MEX][hapmap]
rs7829381	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831885	1.00[CHB][hapmap]
rs978802	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978803	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978804	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	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
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4840567	MFHAS1	cis	cerebellum	SCAN
rs4840567	C8orf48	cis	cerebellum	SCAN
rs4840567	FLJ10661	cis	cerebellum	SCAN
rs4840567	C8orf13	cis	multi-tissue	Pritchard
rs4840567	CLDN23	cis	multi-tissue	Pritchard
rs4840567	CTSB	cis	cerebellum	SCAN
rs4840567	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11338200-11350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:11342200-11348600	ZNF genes & repeats	GM12878-XiMat	blood
4	chr8:11344200-11353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11347000-11348000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr8:11347600-11348000	Enhancers	Primary B cells from cord blood	blood

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