Variant report

Variant	rs4433015
Chromosome Location	chr7:65639723-65639724
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34888281	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35072105	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35510581	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4636083	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6968534	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs781143	0.96[CEU][hapmap]
rs781151	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap]

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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs4433015	GUSB	cis	parietal	SCAN
rs4433015	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs4433015	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs4433015	RABGEF1	cis	parietal	SCAN
rs4433015	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4433015	RP4-756H11.3	cis	Artery Tibial	GTEx
rs4433015	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs4433015	RP4-756H11.3	cis	lung	GTEx
rs4433015	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs4433015	GUSB	cis	cerebellum	SCAN
rs4433015	VKORC1L1	cis	multi-tissue	Pritchard
rs4433015	ZNF273	cis	cerebellum	SCAN
rs4433015	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs4433015	CRCP	cis	parietal	SCAN
rs4433015	RP4-756H11.3	cis	Artery Aorta	GTEx
rs4433015	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs4433015	RP4-756H11.3	cis	Whole Blood	GTEx
rs4433015	RP4-756H11.3	cis	Thyroid	GTEx
rs4433015	RABGEF1	cis	cerebellum	SCAN
rs4433015	RP4-756H11.3	cis	Stomach	GTEx
rs4433015	NCRNA00174	cis	cerebellum	SCAN
rs4433015	KCTD7	cis	parietal	SCAN
rs4433015	CRCP	cis	cerebellum	SCAN
rs4433015	LOC285908	cis	multi-tissue	Pritchard

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65636000-65643200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:65636200-65639800	Weak transcription	NHDF-Ad	bronchial
3	chr7:65636200-65641600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:65636200-65648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:65636800-65648000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:65639200-65641800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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