Variant report

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10504361	0.82[ASN][1000 genomes]
rs11985884	0.82[ASN][1000 genomes]
rs11985904	0.82[ASN][1000 genomes]
rs11989852	0.82[ASN][1000 genomes]
rs11992253	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11993022	0.82[ASN][1000 genomes]
rs16930045	0.82[ASN][1000 genomes]
rs16930060	0.82[ASN][1000 genomes]
rs1902232	0.86[ASN][1000 genomes]
rs1902233	0.86[ASN][1000 genomes]
rs1902234	0.82[ASN][1000 genomes]
rs1902235	0.82[ASN][1000 genomes]
rs2124294	0.82[ASN][1000 genomes]
rs2353363	0.82[ASN][1000 genomes]
rs2353364	0.82[ASN][1000 genomes]
rs2883148	0.82[ASN][1000 genomes]
rs4395892	0.82[ASN][1000 genomes]
rs4410897	0.82[ASN][1000 genomes]
rs4419801	0.82[ASN][1000 genomes]
rs56034470	0.82[ASN][1000 genomes]
rs56213868	0.82[ASN][1000 genomes]
rs56339102	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs57069084	0.82[ASN][1000 genomes]
rs58942648	0.82[ASN][1000 genomes]
rs60751452	0.82[ASN][1000 genomes]
rs60897253	0.82[ASN][1000 genomes]
rs61326296	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62508088	0.82[ASN][1000 genomes]
rs62508111	0.82[ASN][1000 genomes]
rs62508113	0.82[ASN][1000 genomes]
rs66790008	0.82[ASN][1000 genomes]
rs6983643	0.82[ASN][1000 genomes]
rs6983864	0.82[ASN][1000 genomes]
rs6983896	0.82[ASN][1000 genomes]
rs6997520	0.82[ASN][1000 genomes]
rs7015120	0.81[AFR][1000 genomes]
rs7015302	0.82[ASN][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
rs58554293	GGH	cis	Artery Tibial	GTEx
rs58554293	GGH	cis	Adipose Subcutaneous	GTEx
rs58554293	GGH	cis	Nerve Tibial	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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