Variant report

Variant	rs8051595
Chromosome Location	chr16:72421772-72421773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10492820	0.91[AFR][1000 genomes]
rs11075927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11075928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11859210	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11860913	1.00[AMR][1000 genomes]
rs11861074	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12103150	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332257	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13333424	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333480	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13336634	1.00[AMR][1000 genomes]
rs13338269	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13338313	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13338662	1.00[AMR][1000 genomes]
rs13339625	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1429069	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429070	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1557813	1.00[EUR][1000 genomes]
rs16943808	1.00[EUR][1000 genomes]
rs16970828	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970929	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970996	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971006	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1864230	0.84[AFR][1000 genomes]
rs2017748	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2053234	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2107154	1.00[AMR][1000 genomes]
rs2189339	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2336436	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393088	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2840012	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28459407	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28473657	1.00[AMR][1000 genomes]
rs28514442	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28568963	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569075	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28616025	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28634932	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28679760	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28706881	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28712432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28882790	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28888757	0.91[AFR][1000 genomes]
rs35917623	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4624185	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4788635	0.92[AFR][1000 genomes]
rs55777547	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55806458	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57841266	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58363387	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58819288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59875457	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61192283	1.00[AMR][1000 genomes]
rs7184113	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187532	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187674	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7188632	0.89[AFR][1000 genomes]
rs7192337	1.00[AMR][1000 genomes]
rs7197250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7198345	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7198450	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7200007	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7203819	0.85[AMR][1000 genomes]
rs726887	0.87[AFR][1000 genomes]
rs73583171	1.00[AMR][1000 genomes]
rs73583174	1.00[AMR][1000 genomes]
rs73583188	1.00[AMR][1000 genomes]
rs73585209	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73587415	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73599411	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73601423	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73601436	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045319	1.00[AMR][1000 genomes]
rs8045813	1.00[AMR][1000 genomes]
rs8046375	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046891	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050489	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051123	0.85[AMR][1000 genomes]
rs8051420	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051982	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8052117	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053288	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053566	0.85[AMR][1000 genomes]
rs8053837	1.00[AMR][1000 genomes]
rs8057796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063144	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9302636	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9889208	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921281	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9921921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9922597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9922853	1.00[AMR][1000 genomes]
rs9926141	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927677	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9928119	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9928673	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929864	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9930862	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932125	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934152	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9934365	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9934457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935400	1.00[AMR][1000 genomes]
rs9935826	1.00[AMR][1000 genomes]
rs9937525	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937973	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9938153	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72367200-72423600	Weak transcription	Thymus	Thymus
2	chr16:72400600-72422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:72407600-72426400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:72414400-72422400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:72414800-72438800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:72415400-72426400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:72420000-72423000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr16:72420000-72423800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr16:72420800-72422000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr16:72421000-72423800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:72421000-72424000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:72421200-72421800	Weak transcription	Primary B cells from cord blood	blood
13	chr16:72421200-72422200	Weak transcription	Dnd41	blood
14	chr16:72421200-72422600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr16:72421200-72425600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr16:72421600-72423600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr16:72421600-72424800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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