Variant report

Variant	rs9686308
Chromosome Location	chr5:93612831-93612832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10491400	0.81[JPT][hapmap]
rs11739227	0.89[CHB][hapmap];0.84[CHD][hapmap]
rs11743755	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13155450	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13169869	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13185043	0.96[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1460182	0.89[CHB][hapmap];0.84[CHD][hapmap]
rs150637	0.87[EUR][1000 genomes]
rs150638	0.85[EUR][1000 genomes]
rs160269	0.87[EUR][1000 genomes]
rs160271	0.92[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.86[EUR][1000 genomes]
rs160274	0.86[EUR][1000 genomes]
rs17082131	0.85[JPT][hapmap]
rs17083516	0.86[JPT][hapmap]
rs2010909	0.80[JPT][hapmap]
rs2434362	0.83[EUR][1000 genomes]
rs2434363	0.87[EUR][1000 genomes]
rs29950	0.87[EUR][1000 genomes]
rs29954	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs29963	0.88[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs376009	0.83[EUR][1000 genomes]
rs398559	0.87[CEU][hapmap];0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs412888	0.88[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes]
rs414577	0.84[EUR][1000 genomes]
rs432282	0.84[EUR][1000 genomes]
rs9314105	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers 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 target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1024014	chr5:93460441-93655609	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830406	chr5:93514329-93683512	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1027890	chr5:93584978-93873704	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv537809	chr5:93584978-93873704	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv882385	chr5:93589609-93697852	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv823134	chr5:93593894-93664537	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9686308	ARSK	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93568000-93617200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:93579600-93617200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:93587200-93616400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:93587200-93617200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:93587400-93617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:93600200-93617200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:93603600-93617200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:93605000-93617000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:93606400-93617000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:93612000-93617200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:93612400-93613000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:93612400-93613000	Enhancers	Hela-S3	cervix

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