Variant report

Variant	rs2476317
Chromosome Location	chr20:16137298-16137299
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13044905	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1359065	0.87[ASN][1000 genomes]
rs1923951	0.85[ASN][1000 genomes]
rs2010736	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2224734	0.85[ASN][1000 genomes]
rs2760543	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2760546	0.81[ASN][1000 genomes]
rs4814438	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4814441	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6034403	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6043772	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6043773	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6080149	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6080151	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6080153	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6110906	0.84[ASN][1000 genomes]
rs6110927	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8114116	0.85[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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1059778	chr20:15999519-16165895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv544207	chr20:15999519-16165895	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv833930	chr20:16134347-16302763	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16135600-16137400	Weak transcription	Primary B cells from cord blood	blood
2	chr20:16135600-16137400	Weak transcription	Primary B cells from peripheral blood	blood

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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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