Variant report

Variant	rs62051523
Chromosome Location	chr16:31356753-31356754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11574632	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574635	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11863903	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12920910	1.00[ASN][1000 genomes]
rs13336235	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230428	0.85[AMR][1000 genomes]
rs41370044	1.00[ASN][1000 genomes]
rs58200984	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58352473	1.00[ASN][1000 genomes]
rs58656594	1.00[ASN][1000 genomes]
rs58827327	1.00[ASN][1000 genomes]
rs62051462	1.00[ASN][1000 genomes]
rs62051470	1.00[ASN][1000 genomes]
rs62051472	1.00[ASN][1000 genomes]
rs62051481	1.00[ASN][1000 genomes]
rs62054769	1.00[ASN][1000 genomes]
rs72791981	1.00[ASN][1000 genomes]
rs8060163	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31355600-31357000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:31355600-31365600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:31356400-31359000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr16:31356400-31361600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:31356600-31356800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr16:31356600-31357000	Enhancers	GM12878-XiMat	blood
8	chr16:31356600-31358600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr16:31356600-31358800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:31356600-31359400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr16:31356600-31359600	Weak transcription	Spleen	Spleen
12	chr16:31356600-31363600	Weak transcription	Primary T killer naive cells fromperipheralblood	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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