Variant report

Variant	rs16927318
Chromosome Location	chr8:62365912-62365913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10087306	1.00[CEU][hapmap]
rs10088453	1.00[CEU][hapmap]
rs10090149	1.00[CEU][hapmap]
rs10097248	1.00[JPT][hapmap]
rs10112262	1.00[CEU][hapmap]
rs11984936	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11986526	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11991141	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997276	0.88[ASN][1000 genomes]
rs13438822	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1546110	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs16918879	1.00[JPT][hapmap]
rs16927427	1.00[JPT][hapmap]
rs16927431	0.85[JPT][hapmap]
rs16927456	0.85[JPT][hapmap]
rs1968989	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs28660637	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57835491	0.85[ASN][1000 genomes]
rs61636477	1.00[ASN][1000 genomes]
rs6471952	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6992756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996147	0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs6996200	0.93[EUR][1000 genomes]
rs7005403	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7816580	0.88[ASN][1000 genomes]
rs7816683	1.00[JPT][hapmap]
rs7826834	1.00[CEU][hapmap]
rs7831255	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7832524	1.00[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs7840780	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7841058	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7841542	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7842754	1.00[CEU][hapmap]
rs9693981	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv521898	chr8:62364663-62419120	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs16927318	CRX	trans	brain	seeQTL
rs16927318	SLC5A7	trans	brain	seeQTL
rs16927318	LTF	trans	brain	seeQTL
rs16927318	TTR	trans	brain	seeQTL
rs16927318	OTX2	trans	brain	seeQTL
rs16927318	ASMT	trans	brain	seeQTL
rs16927318	DEFB119	trans	brain	seeQTL
rs16927318	SH2D2A	trans	brain	seeQTL
rs16927318	ENO3	trans	brain	seeQTL
rs16927318	GUCA1C	trans	brain	seeQTL
rs16927318	PDE6H	trans	brain	seeQTL
rs16927318	GSG1	trans	brain	seeQTL
rs16927318	DDC	trans	brain	seeQTL
rs16927318	LRTM1	trans	brain	seeQTL
rs16927318	DAPL1	trans	brain	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62310400-62368200	Weak transcription	Fetal Brain Female	brain
2	chr8:62364400-62380800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:62365800-62366600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:62365800-62367400	Enhancers	Placenta Amnion	Placenta Amnion

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