Variant report

Variant	rs11786429
Chromosome Location	chr8:95831345-95831346
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	JUND	chr8:95831320-95831972	K562	blood:	n/a	n/a
2	ZNF384	chr8:95831179-95832039	K562	blood:	n/a	n/a
3	CEBPB	chr8:95831229-95831381	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95830115..95831825-chr8:95835435..95837690,4	K562	blood:

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10956927	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11774806	0.97[ASN][1000 genomes]
rs11775475	0.85[EUR][1000 genomes]
rs11776131	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776489	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776687	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11777132	0.87[EUR][1000 genomes]
rs11777353	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778250	0.93[ASN][1000 genomes]
rs11779041	0.93[ASN][1000 genomes]
rs11779252	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11781099	0.97[ASN][1000 genomes]
rs11781188	0.93[ASN][1000 genomes]
rs11781429	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11781712	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11781843	1.00[ASN][1000 genomes]
rs11782617	0.93[EUR][1000 genomes]
rs11783522	0.88[EUR][1000 genomes]
rs11783589	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11784299	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786021	0.97[ASN][1000 genomes]
rs11786088	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786389	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786451	0.92[EUR][1000 genomes]
rs11787377	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11787442	0.97[ASN][1000 genomes]
rs12056517	0.93[EUR][1000 genomes]
rs12056808	0.93[EUR][1000 genomes]
rs16893774	0.89[EUR][1000 genomes]
rs16917079	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917081	0.93[ASN][1000 genomes]
rs16917082	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917093	0.95[EUR][1000 genomes]
rs17359493	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28399563	0.89[EUR][1000 genomes]
rs28399571	0.84[EUR][1000 genomes]
rs4073916	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075834	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4345531	0.93[ASN][1000 genomes]
rs4355737	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57063661	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57773845	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58489999	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58675831	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59091366	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59265059	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59521030	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60171840	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6986418	0.93[ASN][1000 genomes]
rs6989591	0.95[EUR][1000 genomes]
rs73269162	0.97[ASN][1000 genomes]
rs73269170	0.97[ASN][1000 genomes]
rs73269188	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269191	0.93[ASN][1000 genomes]
rs73269198	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269199	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73271148	0.94[EUR][1000 genomes]
rs7834966	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised 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	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11786429	INTS8	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95827400-95831400	Weak transcription	A549	lung
2	chr8:95827600-95834000	Weak transcription	HepG2	liver
3	chr8:95829200-95834800	Weak transcription	Right Atrium	heart
4	chr8:95831200-95831400	Enhancers	K562	blood

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