Variant report

Variant	rs309887
Chromosome Location	chr4:48300230-48300231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11723080	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11947400	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812667	0.81[EUR][1000 genomes]
rs2271265	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309868	0.87[AMR][1000 genomes]
rs309870	0.87[AMR][1000 genomes]
rs309871	0.84[AMR][1000 genomes]
rs309873	0.87[AMR][1000 genomes]
rs309875	0.89[AMR][1000 genomes]
rs418214	0.91[AMR][1000 genomes]
rs4695369	1.00[EUR][1000 genomes]
rs55784928	1.00[EUR][1000 genomes]
rs55860639	1.00[EUR][1000 genomes]
rs62309366	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62309367	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62309371	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309372	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309393	1.00[EUR][1000 genomes]
rs62309398	0.96[EUR][1000 genomes]
rs62309399	0.96[EUR][1000 genomes]
rs62309400	0.96[EUR][1000 genomes]
rs62309401	0.96[EUR][1000 genomes]
rs62309402	0.96[EUR][1000 genomes]
rs62311477	0.81[EUR][1000 genomes]
rs62311483	0.83[EUR][1000 genomes]
rs62311497	0.83[EUR][1000 genomes]
rs6833004	0.96[EUR][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	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48297800-48300600	Weak transcription	Osteobl	bone
2	chr4:48298800-48301400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:48299600-48301200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:48299800-48301600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:48300200-48300400	Enhancers	Fetal Brain Male	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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