Variant report

Variant	rs12918435
Chromosome Location	chr16:80073590-80073591
allele	A/G
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	MAX	chr16:80073577-80073899	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80071404..80074131-chr16:80075886..80077558,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260237	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11150240	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11639913	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11642318	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11859577	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11862722	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28396518	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4134366	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4286117	0.80[AMR][1000 genomes]
rs4427815	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4486901	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4617874	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4888065	0.82[ASN][1000 genomes]
rs4888066	0.82[ASN][1000 genomes]
rs4889071	0.82[ASN][1000 genomes]
rs4889072	0.82[ASN][1000 genomes]
rs4889073	0.82[ASN][1000 genomes]
rs4889074	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889075	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889077	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4889079	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4889081	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6564726	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7189965	0.95[EUR][1000 genomes]
rs9921252	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9929398	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80062000-80075000	Weak transcription	NH-A	brain
2	chr16:80064600-80073600	Weak transcription	HMEC	breast
3	chr16:80070200-80074800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:80070800-80074200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:80072200-80076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:80072800-80073800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:80072800-80085200	Weak transcription	Esophagus	oesophagus
8	chr16:80073000-80074200	Weak transcription	NHEK	skin
9	chr16:80073200-80078000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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