Variant report

Variant	rs749211
Chromosome Location	chr3:143775358-143775359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10513238	1.00[ASN][1000 genomes]
rs1445413	1.00[ASN][1000 genomes]
rs16854851	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs35988300	1.00[ASN][1000 genomes]
rs56936044	1.00[ASN][1000 genomes]
rs58523942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59184234	1.00[ASN][1000 genomes]
rs60708157	1.00[ASN][1000 genomes]
rs6795569	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6806008	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73004506	1.00[ASN][1000 genomes]
rs73004578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615862	1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs7621156	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7632248	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7642205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1010117	chr3:143750590-144093775	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv536748	chr3:143750590-144093775	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv877569	chr3:143762420-143825439	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1010213	chr3:143775358-143863149	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143772200-143775600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:143772400-143775400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:143773000-143775600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:143773000-143775600	Enhancers	HSMM	muscle
5	chr3:143773000-143778800	Weak transcription	Brain Substantia Nigra	brain
6	chr3:143774600-143775600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:143774800-143775400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:143774800-143775400	Enhancers	HSMMtube	muscle
9	chr3:143775000-143775800	Enhancers	Brain Anterior Caudate	brain
10	chr3:143775200-143775600	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:143775200-143775600	Enhancers	Brain Inferior Temporal Lobe	brain

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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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