Variant report

Variant	rs1916175
Chromosome Location	chr8:34611275-34611276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10093005	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10110457	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10283194	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11988462	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995347	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114068	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317084	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13254921	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13262347	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13263701	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13264659	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403375	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1403377	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522844	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1522849	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522850	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522853	0.86[ASN][1000 genomes]
rs1608233	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16915	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1807927	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1916170	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1916172	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916173	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916176	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1949719	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949720	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1949721	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254811	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2254888	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256710	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2257117	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2257183	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685590	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2685591	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2685593	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685594	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685595	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685596	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685599	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2685600	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2685602	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685603	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685604	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685605	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685607	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2685609	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2685610	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2687543	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2687544	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2687545	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2687546	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2687548	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2687549	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2687554	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2687556	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2687557	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28538456	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35383581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57209233	0.86[ASN][1000 genomes]
rs6468286	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468288	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6468289	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994824	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007425	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816776	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7822537	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7837402	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7843303	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845916	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs952902	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831283	chr8:34501243-34662634	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv525800	chr8:34568015-34615454	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv890715	chr8:34568015-34700530	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1815008	chr8:34577042-34615454	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1810036	chr8:34577042-34620708	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1916175	SNCAIP	trans	parietal	SCAN
rs1916175	UNC5D	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34609400-34611800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:34611000-34614400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:34611200-34611400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:34611200-34611400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:34611200-34611400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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