Variant report

Variant	rs72819917
Chromosome Location	chr2:98958071-98958072
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	FOS	chr2:98957830-98958077	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CNGA3	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11684899	0.81[EUR][1000 genomes]
rs11691306	0.81[EUR][1000 genomes]
rs17427608	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17427825	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17428745	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17428990	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17429379	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17500406	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17501094	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62155312	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62155317	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62155347	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62155354	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62155355	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62155358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156305	0.82[EUR][1000 genomes]
rs62156724	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62156744	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62157892	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62157901	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62157907	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62157908	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62157916	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72817785	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817792	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817793	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72819903	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72819919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819921	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008645	chr2:98915767-99010743	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1010466	chr2:98938886-98998109	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1013617	chr2:98943377-99004173	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98951800-98959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:98956400-98960600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:98956600-98959000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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