Variant report

Variant	rs12150159
Chromosome Location	chr17:66721768-66721769
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12451052	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4383213	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66599911	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065571	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8077076	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8078116	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8081309	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9900449	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12150159	MAP3K3	cis	cerebellum	SCAN
rs12150159	EFCAB3	cis	parietal	SCAN
rs12150159	C17orf58	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66721200-66722000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:66721200-66722000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:66721600-66722000	Enhancers	Fetal Heart	heart
4	chr17:66721600-66728600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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