Variant report

Variant	rs67690801
Chromosome Location	chr3:147017500-147017501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11716981	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13067005	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13079809	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085931	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1503731	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17567193	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062599	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35716200	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66483436	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73166642	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166647	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[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	esv3385588	chr3:146782324-147083081	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv877628	chr3:146964828-147058367	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv1013080	chr3:147008962-147167690	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536763	chr3:147008962-147167690	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:147015600-147017600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:147015600-147017800	Enhancers	Rectal Smooth Muscle	rectum
3	chr3:147015600-147018000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:147015800-147017600	Enhancers	Colon Smooth Muscle	Colon
5	chr3:147015800-147017800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:147015800-147017800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:147015800-147018400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:147016400-147018000	Enhancers	NHDF-Ad	bronchial
9	chr3:147016400-147018400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:147016600-147017800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:147017000-147017600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:147017000-147017800	Enhancers	NH-A	brain
13	chr3:147017200-147018200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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