Variant report

Variant	rs2189339
Chromosome Location	chr16:72507717-72507718
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs11075927	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11075928	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11859210	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860402	1.00[CEU][hapmap]
rs11860511	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11860913	1.00[AMR][1000 genomes]
rs11861074	0.83[AMR][1000 genomes]
rs11861672	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs11866292	1.00[AMR][1000 genomes]
rs12103150	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331987	1.00[AMR][1000 genomes]
rs13332257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13333480	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13336634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338662	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1429069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1429070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1429433	0.85[YRI][hapmap]
rs1557813	0.86[EUR][1000 genomes]
rs16943808	0.86[EUR][1000 genomes]
rs16970828	1.00[AMR][1000 genomes]
rs16970897	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16970929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16970987	0.85[AFR][1000 genomes]
rs16970996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971145	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1864230	0.92[AFR][1000 genomes]
rs2017748	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2053234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2107154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2163066	0.89[AFR][1000 genomes]
rs2336436	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28393088	1.00[AMR][1000 genomes]
rs2840012	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28459407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28464989	1.00[AMR][1000 genomes]
rs28473657	1.00[AMR][1000 genomes]
rs28514442	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28568963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569075	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28616025	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28634932	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28706881	0.83[AMR][1000 genomes]
rs28712432	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28828717	1.00[AMR][1000 genomes]
rs28882790	1.00[AMR][1000 genomes]
rs35917623	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4255793	1.00[AMR][1000 genomes]
rs4624185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55777547	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55806458	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57841266	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58363387	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58819288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59875457	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61192283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499589	0.85[AMR][1000 genomes]
rs7184113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184224	1.00[AMR][1000 genomes]
rs7185566	0.85[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs7187532	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7187768	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs7192337	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7197250	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7199507	1.00[AMR][1000 genomes]
rs7199594	1.00[AMR][1000 genomes]
rs7203819	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73583171	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583174	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583188	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583198	0.83[AMR][1000 genomes]
rs73584928	1.00[AMR][1000 genomes]
rs73584931	0.85[AMR][1000 genomes]
rs73585209	1.00[AMR][1000 genomes]
rs73587415	0.83[AMR][1000 genomes]
rs73599411	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73601423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73601436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8043976	0.95[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8045319	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045813	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046375	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8046891	1.00[AMR][1000 genomes]
rs8050489	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051123	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8051420	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051595	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8051982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8052117	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8053288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8053419	0.85[YRI][hapmap]
rs8053566	0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8053837	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8057796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061838	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs8063144	0.83[AMR][1000 genomes]
rs9302636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9889208	1.00[AMR][1000 genomes]
rs9921921	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9922597	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9922853	1.00[AMR][1000 genomes]
rs9923235	1.00[AMR][1000 genomes]
rs9926141	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9926706	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs9927677	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9928119	0.83[AMR][1000 genomes]
rs9928673	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929006	1.00[AMR][1000 genomes]
rs9930862	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9932125	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933062	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9934152	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9934457	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9935400	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935826	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937525	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9938038	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs999210	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1063172	chr16:72342110-72537808	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv542947	chr16:72342110-72537808	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1067525	chr16:72342110-72602796	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv542948	chr16:72342110-72602796	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1057127	chr16:72375524-72509686	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv542949	chr16:72375524-72509686	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1055807	chr16:72418417-72614308	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv572956	chr16:72426448-72517014	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv523524	chr16:72464460-72635674	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1055142	chr16:72473520-72627783	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv542950	chr16:72473520-72627783	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72489600-72508400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72494600-72516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:72499800-72508600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:72503000-72508200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:72504000-72507800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:72504200-72509600	Weak transcription	Fetal Heart	heart
7	chr16:72504800-72508200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:72505000-72508200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:72505400-72508000	Weak transcription	HepG2	liver
10	chr16:72507000-72509400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:72507200-72508400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:72507200-72508800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:72507200-72509400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:72507200-72509400	Enhancers	Osteobl	bone
15	chr16:72507600-72509000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr16:72507600-72509400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr16:72507600-72510000	Enhancers	Muscle Satellite Cultured Cells	--

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