Variant report

Variant	rs9928594
Chromosome Location	chr16:80570241-80570242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr16:80570172-80570372	K562	blood:	n/a	n/a
2	RUNX3	chr16:80570090-80570745	GM12878	blood:	n/a	n/a
3	MAFF	chr16:80570159-80570480	K562	blood:	n/a	n/a
4	BACH1	chr16:80570224-80570506	K562	blood:	n/a	n/a
5	MAFK	chr16:80570193-80570501	HepG2	liver:	n/a	chr16:80570328-80570343
6	NFIC	chr16:80570084-80570725	GM12878	blood:	n/a	n/a
7	MAFK	chr16:80570202-80570482	HepG2	liver:	n/a	chr16:80570328-80570343
8	FOS	chr16:80570236-80570413	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFK	chr16:80570210-80570494	K562	blood:	n/a	chr16:80570328-80570343

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80568318..80572453-chr16:80572864..80575602,4	K562	blood:

Variant related genes	Relation type
DYNLRB2	TF binding region
ENSG00000259867	Chromatin interaction
ENSG00000168589	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11640665	0.95[AFR][1000 genomes]
rs28558345	0.80[AMR][1000 genomes]
rs4392091	0.82[AMR][1000 genomes]
rs4558433	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4577099	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889156	0.82[AMR][1000 genomes]
rs7185063	0.80[AMR][1000 genomes]
rs7189437	0.84[ASN][1000 genomes]
rs7189457	0.82[AMR][1000 genomes]
rs7190501	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192862	0.82[AMR][1000 genomes]
rs7196394	0.80[AMR][1000 genomes]
rs7197982	0.80[AMR][1000 genomes]
rs8044239	0.82[AMR][1000 genomes]
rs8047198	0.89[CHB][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs8048886	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053848	0.82[AMR][1000 genomes]
rs8059886	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9806865	0.82[AMR][1000 genomes]
rs9806870	0.82[AMR][1000 genomes]
rs9806915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9806977	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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