Variant report

Variant	rs1151874
Chromosome Location	chr12:121092555-121092556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1616213	0.90[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.93[ASN][1000 genomes]
rs2686553	0.93[ASN][1000 genomes]
rs2686556	1.00[CEU][hapmap];0.92[GIH][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs2859264	0.84[ASN][1000 genomes]
rs2859265	0.88[ASN][1000 genomes]
rs2859267	0.90[ASN][1000 genomes]
rs503667	0.92[CEU][hapmap];0.92[GIH][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap]
rs508699	0.93[ASN][1000 genomes]
rs553328	0.90[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs56182086	0.83[ASN][1000 genomes]
rs693074	0.90[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs693388	0.81[CEU][hapmap]
rs7955217	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	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
rs1151874	TAOK3	cis	parietal	SCAN

Chromatin state (count:30 , 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	chr12:121087800-121093000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:121089600-121093000	Enhancers	Adipose Nuclei	Adipose
4	chr12:121089800-121095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:121090000-121092800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
6	chr12:121090000-121097000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:121090000-121106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:121090200-121093000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:121090400-121093000	Enhancers	Placenta	Placenta
10	chr12:121090400-121093000	Enhancers	Left Ventricle	heart
11	chr12:121090600-121093000	Enhancers	Spleen	Spleen
12	chr12:121090800-121092800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:121091000-121092600	Enhancers	Aorta	Aorta
14	chr12:121091000-121104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:121091000-121107000	Weak transcription	Brain Anterior Caudate	brain
16	chr12:121091200-121093600	Enhancers	Right Ventricle	heart
17	chr12:121091200-121106600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:121091200-121106800	Weak transcription	Brain Germinal Matrix	brain
19	chr12:121091600-121092800	Enhancers	Fetal Muscle Leg	muscle
20	chr12:121091600-121092800	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:121091600-121093000	Enhancers	Right Atrium	heart
22	chr12:121091800-121092600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:121091800-121092600	Enhancers	Fetal Muscle Trunk	muscle
24	chr12:121091800-121093400	Enhancers	Fetal Heart	heart
25	chr12:121092000-121093000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:121092000-121093200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr12:121092000-121098000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:121092200-121096600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:121092400-121092800	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr12:121092400-121096200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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