Variant report

Variant	rs72793276
Chromosome Location	chr16:72748811-72748812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72748314..72750943-chr16:72756262..72758683,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11075943	0.88[EUR][1000 genomes]
rs11075944	0.86[EUR][1000 genomes]
rs11075945	0.86[EUR][1000 genomes]
rs1429430	0.88[EUR][1000 genomes]
rs16971138	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115624	0.88[EUR][1000 genomes]
rs55798436	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56394277	0.95[EUR][1000 genomes]
rs59374962	0.94[ASN][1000 genomes]
rs59831429	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7202635	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72789392	0.91[ASN][1000 genomes]
rs72789402	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72791103	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72791108	0.95[EUR][1000 genomes]
rs72791109	0.92[EUR][1000 genomes]
rs8047850	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8050315	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9927487	0.95[EUR][1000 genomes]
rs9934887	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9939154	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1059111	chr16:72647569-72751907	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1822094	chr16:72694760-72787961	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv572958	chr16:72696112-72778617	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72746000-72749600	Weak transcription	Primary B cells from cord blood	blood
2	chr16:72746000-72752000	Weak transcription	Fetal Intestine Large	intestine
3	chr16:72746400-72749400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:72746400-72760800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:72746600-72750400	Weak transcription	Thymus	Thymus
6	chr16:72746600-72755400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:72746800-72749000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:72747200-72749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:72747600-72750200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:72747800-72757600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:72748200-72749400	Strong transcription	Ovary	ovary
12	chr16:72748400-72750400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:72748600-72750200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:72748800-72749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:72748800-72749800	Enhancers	Osteobl	bone
16	chr16:72748800-72750600	Strong transcription	Dnd41	blood

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