Variant report

Variant	rs8054280
Chromosome Location	chr16:74055564-74055565
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13332202	1.00[ASN][1000 genomes]
rs13339077	1.00[ASN][1000 genomes]
rs57220368	1.00[ASN][1000 genomes]
rs57362126	1.00[ASN][1000 genomes]
rs73609082	0.85[AMR][1000 genomes]
rs9937478	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	nsv906900	chr16:73650853-74349043	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv906901	chr16:73752982-74455293	Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3505286	chr16:73985029-74382420	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3505287	chr16:73985029-74382420	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv572971	chr16:74050297-74176712	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74047200-74063000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:74053400-74055600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr16:74054400-74058200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:74054400-74059000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:74054400-74059200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:74054600-74058000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:74054600-74058200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:74054800-74057800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:74054800-74059200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:74055000-74058200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:74055200-74058600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:74055200-74058800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:74055400-74059000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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