Variant report

Variant	rs8049769
Chromosome Location	chr16:80577098-80577099
allele	G/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	GATA3	chr16:80577061-80577438	T-47D	breast:	n/a	n/a
2	FOXA1	chr16:80577029-80577457	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:80573111..80574963-chr16:80576346..80580119,3	K562	blood:
2	chr16:80573017..80574963-chr16:80576346..80578299,2	K562	blood:
3	chr16:80576616..80579351-chr16:80593938..80597383,3	MCF-7	breast:
4	chr16:80573239..80577400-chr16:80578381..80583465,6	MCF-7	breast:

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16953630	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4258630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4291914	1.00[EUR][1000 genomes]
rs6564764	0.83[ASW][hapmap];0.82[LWK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs7186842	0.94[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187446	0.84[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188110	0.87[MKK][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7189758	1.00[EUR][1000 genomes]
rs7191601	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206475	0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs726811	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73580250	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580255	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580262	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580273	1.00[EUR][1000 genomes]
rs73580290	1.00[EUR][1000 genomes]
rs73580293	1.00[EUR][1000 genomes]
rs73580295	1.00[EUR][1000 genomes]
rs73580299	1.00[EUR][1000 genomes]
rs73588482	1.00[EUR][1000 genomes]
rs73588498	1.00[EUR][1000 genomes]
rs73588500	1.00[EUR][1000 genomes]
rs74029692	1.00[EUR][1000 genomes]
rs8052782	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9937836	0.86[AFR][1000 genomes]
rs9939509	0.84[AFR][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80575400-80578400	Weak transcription	Placenta	Placenta
2	chr16:80575400-80579800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr16:80575400-80587200	Weak transcription	Pancreas	Pancrea
4	chr16:80575400-80587800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:80575600-80577400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:80575600-80577800	Weak transcription	Liver	Liver
7	chr16:80575600-80577800	Weak transcription	NHEK	skin
8	chr16:80575600-80578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:80575600-80578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:80575800-80585800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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