Variant report

Variant	rs7819947
Chromosome Location	chr8:61361493-61361494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10087760	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10092773	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10102945	0.86[ASN][1000 genomes]
rs10504312	0.85[ASN][1000 genomes]
rs11988766	0.85[ASN][1000 genomes]
rs11988798	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548711	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1318227	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1552070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842388	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893277	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1893279	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1941467	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012856	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2068587	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2155831	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471877	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471880	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471881	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6982032	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986664	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6993588	0.82[EUR][1000 genomes]
rs6994192	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6998307	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6999822	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004236	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7814226	0.86[ASN][1000 genomes]
rs7824474	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7824671	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7828383	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7831106	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841648	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9785091	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7819947	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs7819947	RP11-163N6.2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61361000-61361600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:61361200-61361800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:61361400-61361800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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