Variant report

Variant	rs8043976
Chromosome Location	chr16:72703758-72703759
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	MYC	chr16:72703684-72703832	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000261008	TF binding region
RNU7-90P	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs11861408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861672	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863759	1.00[EUR][1000 genomes]
rs11865496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11866292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12103150	0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331987	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336634	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338662	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429433	0.85[ASW][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs16970929	1.00[AMR][1000 genomes]
rs16970996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971145	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971240	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971367	1.00[EUR][1000 genomes]
rs16971373	1.00[EUR][1000 genomes]
rs2107154	1.00[AMR][1000 genomes]
rs2115626	0.81[AFR][1000 genomes]
rs2163066	0.83[AFR][1000 genomes]
rs2189339	1.00[AMR][1000 genomes]
rs2336436	1.00[AMR][1000 genomes]
rs28393137	0.86[AFR][1000 genomes]
rs2840012	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28459407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464989	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514442	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28530505	1.00[EUR][1000 genomes]
rs28568963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28569075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28616025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28693857	1.00[EUR][1000 genomes]
rs28828717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28847294	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4255793	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4624185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55777547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56991537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58363387	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58819288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61192283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499589	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185566	0.92[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187768	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192337	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193704	0.92[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195234	0.92[ASW][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197918	1.00[EUR][1000 genomes]
rs7199507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199594	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201079	1.00[TSI][hapmap]
rs7202598	1.00[EUR][1000 genomes]
rs7203819	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7204403	0.82[AFR][1000 genomes]
rs73583171	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583174	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583188	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584928	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584931	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584955	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590703	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590712	1.00[EUR][1000 genomes]
rs73590718	1.00[EUR][1000 genomes]
rs73590724	1.00[EUR][1000 genomes]
rs73599411	1.00[AMR][1000 genomes]
rs73601423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601436	1.00[AMR][1000 genomes]
rs8045319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045813	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048860	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051123	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051420	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053419	0.85[YRI][hapmap]
rs8053566	0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053837	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061838	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302642	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302643	1.00[MEX][hapmap]
rs9889054	1.00[TSI][hapmap]
rs9923235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926706	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9928673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929006	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933062	1.00[AMR][1000 genomes]
rs9933331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935518	1.00[EUR][1000 genomes]
rs9935826	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937525	0.85[AMR][1000 genomes]
rs9938038	0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs999210	0.93[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv530712	chr16:72499171-72744114	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv1818026	chr16:72633305-72704680	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72699400-72704400	Weak transcription	Small Intestine	intestine
2	chr16:72699800-72705000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:72699800-72706400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:72700000-72704600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:72700000-72704800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:72700000-72705400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr16:72700000-72705600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:72700000-72705800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:72700200-72703800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:72700400-72705000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr16:72700400-72705600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr16:72700400-72706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:72700600-72704600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:72701200-72705200	Weak transcription	Dnd41	blood
15	chr16:72703400-72706400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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