Variant report

Variant	rs7643485
Chromosome Location	chr3:21833985-21833986
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11915544	0.82[CHB][hapmap]
rs17009582	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17563952	0.96[EUR][1000 genomes]
rs17621887	0.94[EUR][1000 genomes]
rs17621934	0.92[EUR][1000 genomes]
rs17635545	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335428	0.85[EUR][1000 genomes]
rs4327413	0.82[EUR][1000 genomes]
rs4464480	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629355	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858015	0.87[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs4858020	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59687360	0.82[EUR][1000 genomes]
rs60153985	0.82[EUR][1000 genomes]
rs71618873	0.82[EUR][1000 genomes]
rs73820142	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7616119	0.82[CHB][hapmap]
rs7618602	0.82[EUR][1000 genomes]
rs7652766	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][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	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv834632	chr3:21803941-21974082	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21820800-21835600	Weak transcription	Left Ventricle	heart
2	chr3:21823800-21836000	Weak transcription	Aorta	Aorta
3	chr3:21826600-21838200	Weak transcription	Right Atrium	heart
4	chr3:21832400-21834200	Enhancers	Adipose Nuclei	Adipose
5	chr3:21832800-21836600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:21833000-21836200	Weak transcription	Fetal Brain Male	brain
7	chr3:21833200-21834400	Enhancers	Fetal Muscle Leg	muscle
8	chr3:21833200-21835000	Weak transcription	Fetal Lung	lung
9	chr3:21833200-21836600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:21833400-21834400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:21833600-21835800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:21833800-21834200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:21833800-21834200	Enhancers	Psoas Muscle	Psoas
14	chr3:21833800-21837200	Enhancers	Cortex derived primary cultured neurospheres	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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