Variant report

Variant	rs2353366
Chromosome Location	chr8:63883904-63883905
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63883110..63885219-chr8:64022208..64024652,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1031553	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10957259	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957262	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957263	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10957264	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957267	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs11994355	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12541798	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12544234	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12547830	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12548933	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs12681818	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12681874	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs16918945	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16918948	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16930047	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16930051	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16930062	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16930070	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2124293	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2168316	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2168317	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737623	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4739033	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4739034	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4739039	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4739040	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4739041	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57646286	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59202889	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60408006	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60782904	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60865954	0.89[EUR][1000 genomes]
rs62508118	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508120	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62508122	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6984196	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7004312	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7017200	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
3	nsv890963	chr8:63846472-63885100	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv890964	chr8:63848556-63898146	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2353366	GGH	cis	Nerve Tibial	GTEx
rs2353366	GGH	cis	Artery Tibial	GTEx
rs2353366	GGH	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63868600-63895800	Weak transcription	Fetal Brain Female	brain
2	chr8:63878000-63892000	Weak transcription	Brain Germinal Matrix	brain
3	chr8:63880200-63888000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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