Variant report

Variant	rs693388
Chromosome Location	chr12:121093419-121093420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1151872	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151873	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151874	0.81[CEU][hapmap]
rs1794733	0.90[ASN][1000 genomes]
rs2686555	0.88[MEX][hapmap]
rs2686556	0.84[ASW][hapmap];0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs503667	0.80[CEU][hapmap];0.83[CHD][hapmap];0.80[JPT][hapmap];0.92[MEX][hapmap]
rs568489	0.84[MEX][hapmap]
rs569499	0.88[MEX][hapmap];0.81[AMR][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs693388	TAOK3	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121087600-121096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:121089800-121095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121090000-121097000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:121090000-121106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:121091000-121104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:121091000-121107000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:121091200-121093600	Enhancers	Right Ventricle	heart
8	chr12:121091200-121106600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:121091200-121106800	Weak transcription	Brain Germinal Matrix	brain
10	chr12:121092000-121098000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:121092200-121096600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:121092400-121096200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:121093000-121093600	Weak transcription	Spleen	Spleen
14	chr12:121093000-121096600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:121093000-121096600	Weak transcription	Left Ventricle	heart
16	chr12:121093000-121096600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:121093000-121107200	Weak transcription	Right Atrium	heart
18	chr12:121093200-121107000	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:121093200-121107200	Weak transcription	Fetal Lung	lung

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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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