Variant report

Variant	rs1473817
Chromosome Location	chr8:67296399-67296400
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10092151	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095182	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095818	1.00[ASN][1000 genomes]
rs10099908	1.00[ASN][1000 genomes]
rs10100008	1.00[ASN][1000 genomes]
rs10108841	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113313	1.00[ASN][1000 genomes]
rs10957373	0.80[EUR][1000 genomes]
rs11782087	1.00[ASN][1000 genomes]
rs11784186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984980	1.00[ASN][1000 genomes]
rs13282925	0.83[EUR][1000 genomes]
rs1426905	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932829	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17320665	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17322654	1.00[ASN][1000 genomes]
rs1863639	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377354	1.00[ASN][1000 genomes]
rs28497070	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28505853	1.00[ASN][1000 genomes]
rs28532882	0.81[EUR][1000 genomes]
rs28609784	1.00[ASN][1000 genomes]
rs28664134	1.00[ASN][1000 genomes]
rs4291250	1.00[ASN][1000 genomes]
rs4448262	1.00[ASN][1000 genomes]
rs60798600	1.00[ASN][1000 genomes]
rs6472275	0.84[EUR][1000 genomes]
rs7006908	1.00[ASN][1000 genomes]
rs73691530	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657084	1.00[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1473817	C8orf46	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67291000-67304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67292800-67296600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:67293000-67298400	Enhancers	Fetal Heart	heart
4	chr8:67293000-67300200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:67293600-67297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:67295600-67296600	Weak transcription	Fetal Brain Female	brain
7	chr8:67295800-67299000	Weak transcription	Placenta	Placenta
8	chr8:67295800-67299600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:67295800-67300200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:67295800-67301000	Weak transcription	Right Atrium	heart

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