Variant report

Variant	rs16970996
Chromosome Location	chr16:72556930-72556931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs11075927	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11075928	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859210	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860511	1.00[AMR][1000 genomes]
rs11860913	1.00[AMR][1000 genomes]
rs11861074	0.83[AMR][1000 genomes]
rs11861672	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863759	1.00[EUR][1000 genomes]
rs11866292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12103150	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333480	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336634	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338662	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1429070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1429433	1.00[TSI][hapmap];0.85[YRI][hapmap]
rs16970828	1.00[AMR][1000 genomes]
rs16970897	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970987	0.88[AFR][1000 genomes]
rs16971006	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971145	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1864230	0.91[AFR][1000 genomes]
rs2017748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2163066	0.92[AFR][1000 genomes]
rs2189339	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2336436	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28393088	1.00[AMR][1000 genomes]
rs2840012	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28459407	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28473657	1.00[AMR][1000 genomes]
rs28514442	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28568963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28569075	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28616025	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28634932	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28706881	0.83[AMR][1000 genomes]
rs28712432	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28828717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28847294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28882790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35917623	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4255793	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4624185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55777547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55806458	1.00[AMR][1000 genomes]
rs57841266	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58363387	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58819288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59875457	1.00[AMR][1000 genomes]
rs61192283	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61398692	1.00[EUR][1000 genomes]
rs6499589	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185566	0.85[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187532	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187768	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197250	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199507	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203819	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583002	1.00[EUR][1000 genomes]
rs73583171	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583174	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583188	0.86[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584931	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73585209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73585273	1.00[EUR][1000 genomes]
rs73585295	1.00[EUR][1000 genomes]
rs73587415	0.83[AMR][1000 genomes]
rs73599411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73601423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601436	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8043976	0.97[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]
rs8045319	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045813	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046375	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046891	1.00[AMR][1000 genomes]
rs8048860	1.00[AMR][1000 genomes]
rs8050489	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051123	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051420	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051595	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051982	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8052117	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053288	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053419	0.85[YRI][hapmap]
rs8053566	0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061838	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8063144	0.83[AMR][1000 genomes]
rs9302636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9302642	1.00[AMR][1000 genomes]
rs9889208	1.00[AMR][1000 genomes]
rs9921921	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922597	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922853	1.00[AMR][1000 genomes]
rs9923235	1.00[AMR][1000 genomes]
rs9926141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926706	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927677	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928119	0.83[AMR][1000 genomes]
rs9928673	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929006	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9930862	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934152	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934457	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935400	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935826	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937525	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9938038	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs999210	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv1064928	chr16:72509626-72627783	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1065173	chr16:72509626-72693970	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv542951	chr16:72509626-72693970	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv518234	chr16:72544447-72635674	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72545000-72588800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr16:72552600-72567400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:72554600-72571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:72554800-72557400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:72555200-72557200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:72555200-72557800	Weak transcription	K562	blood
7	chr16:72555400-72557400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:72555400-72558000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr16:72555600-72557200	ZNF genes & repeats	Dnd41	blood
10	chr16:72555600-72557600	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr16:72555600-72557800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr16:72555800-72557400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr16:72555800-72557400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr16:72556000-72557400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:72556000-72557600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:72556200-72557400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr16:72556200-72557400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr16:72556400-72557200	ZNF genes & repeats	HSMM	muscle
19	chr16:72556400-72557400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
20	chr16:72556400-72557400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr16:72556600-72557400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:72556600-72557800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:72556600-72558800	Weak transcription	Ovary	ovary
24	chr16:72556800-72557600	Weak transcription	Fetal Thymus	thymus
25	chr16:72556800-72557800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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