Variant report

Variant	rs7700716
Chromosome Location	chr5:124387905-124387906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10040754	0.85[ASN][1000 genomes]
rs11241784	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11955202	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28649435	0.93[ASN][1000 genomes]
rs4075487	0.93[ASN][1000 genomes]
rs4131047	0.82[JPT][hapmap]
rs4293913	0.87[ASN][1000 genomes]
rs4415071	0.82[JPT][hapmap]
rs4451044	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4510579	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4555796	1.00[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4836144	0.91[ASN][1000 genomes]
rs55888913	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55919034	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58908150	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59612060	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62372843	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62372851	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6595573	0.87[ASN][1000 genomes]
rs6866873	0.93[ASN][1000 genomes]
rs6872841	0.92[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72787446	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7444307	0.90[ASN][1000 genomes]
rs7446011	0.93[ASN][1000 genomes]
rs7711673	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686683	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7700716	ZNF608	cis	lymphoblastoid	seeQTL
rs7700716	ACBD3	trans	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124379000-124388200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:124380600-124388400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:124381800-124388600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:124382800-124388400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:124382800-124394200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:124382800-124394200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:124383000-124389400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:124387000-124389800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:124387200-124392200	Weak transcription	Brain Anterior Caudate	brain
10	chr5:124387200-124392400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:124387200-124392400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:124387200-124392400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:124387400-124392400	Weak transcription	Aorta	Aorta

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