Variant report

Variant	rs57460775
Chromosome Location	chr3:120178124-120178125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1520877	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1520879	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1520880	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72960832	0.81[AFR][1000 genomes]
rs7637904	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7649619	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9843734	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9849292	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9854846	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9868131	0.95[AFR][1000 genomes];1.00[AMR][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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 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	chr3:120170400-120190800	Weak transcription	Aorta	Aorta
2	chr3:120170600-120178800	Weak transcription	Brain Germinal Matrix	brain
3	chr3:120170800-120178200	Weak transcription	Right Atrium	heart
4	chr3:120171000-120179600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:120171400-120179400	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:120171800-120180600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:120173600-120179200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:120177200-120178200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:120177200-120180600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:120177600-120180400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:120178000-120178200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:120178000-120178600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:120178000-120178800	Enhancers	Left Ventricle	heart

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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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