Variant report

Variant	rs8059268
Chromosome Location	chr16:72703116-72703117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1035983	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1035984	0.87[ASN][1000 genomes]
rs10400973	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10492826	0.81[ASN][1000 genomes]
rs11075930	1.00[AFR][1000 genomes]
rs11075931	1.00[AFR][1000 genomes]
rs11075938	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11075940	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11531326	1.00[AFR][1000 genomes]
rs12051226	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12051305	0.81[ASN][1000 genomes]
rs12051376	1.00[AFR][1000 genomes]
rs12051436	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12103361	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs12445485	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12595874	0.89[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes]
rs12596196	1.00[AFR][1000 genomes]
rs12596421	1.00[AFR][1000 genomes]
rs12596520	1.00[AFR][1000 genomes]
rs12597202	1.00[AFR][1000 genomes]
rs12597703	1.00[AFR][1000 genomes]
rs12598003	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12598048	0.81[ASN][1000 genomes]
rs12599442	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12599589	1.00[AFR][1000 genomes]
rs12600293	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs12600298	0.83[AFR][1000 genomes]
rs12708932	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12921040	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12924860	0.82[AMR][1000 genomes]
rs13332877	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs1366846	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1366847	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1429431	0.89[ASN][1000 genomes]
rs1429432	0.87[ASN][1000 genomes]
rs1429433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1429434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1529527	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1544964	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16970998	1.00[AFR][1000 genomes]
rs16971287	1.00[AFR][1000 genomes]
rs16971292	1.00[AFR][1000 genomes]
rs16971306	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs16971312	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs16971314	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs16971315	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs16971318	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs16971321	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs16971324	1.00[AFR][1000 genomes]
rs16971325	1.00[AFR][1000 genomes]
rs1990096	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs2040939	0.83[AFR][1000 genomes]
rs2040940	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2043022	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2107153	1.00[AFR][1000 genomes]
rs2115625	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2115626	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2163067	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2229286	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs2229290	1.00[AFR][1000 genomes]
rs2266932	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2266934	1.00[AFR][1000 genomes]
rs2266935	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2266936	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs2266938	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs2266939	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2266941	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2266942	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2266944	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs2358805	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2358811	0.81[ASN][1000 genomes]
rs2860232	1.00[AFR][1000 genomes]
rs2884552	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2905695	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2905696	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2914768	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2914770	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2914772	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2914773	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2914776	0.81[ASN][1000 genomes]
rs2914778	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2914781	1.00[AFR][1000 genomes]
rs292913	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs292914	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs292915	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs292916	0.86[ASN][1000 genomes]
rs292917	0.86[ASN][1000 genomes]
rs292918	0.86[ASN][1000 genomes]
rs292919	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs292920	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs292921	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs292922	0.86[ASN][1000 genomes]
rs292923	0.86[ASN][1000 genomes]
rs292924	0.86[ASN][1000 genomes]
rs292925	0.86[ASN][1000 genomes]
rs292926	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs292927	0.86[ASN][1000 genomes]
rs292928	0.86[ASN][1000 genomes]
rs292929	0.85[ASN][1000 genomes]
rs292930	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs292931	0.86[ASN][1000 genomes]
rs292932	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs292933	0.86[ASN][1000 genomes]
rs292934	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs292935	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs292937	0.86[ASN][1000 genomes]
rs292938	0.86[ASN][1000 genomes]
rs292939	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs292940	0.85[ASN][1000 genomes]
rs292941	0.85[ASN][1000 genomes]
rs292942	0.81[ASN][1000 genomes]
rs292943	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs292945	1.00[AFR][1000 genomes]
rs2967238	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2967239	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3812983	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4238966	1.00[AFR][1000 genomes]
rs4278755	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4788474	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4788655	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4788657	1.00[AFR][1000 genomes]
rs4788663	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4788664	1.00[AFR][1000 genomes]
rs4788666	1.00[AFR][1000 genomes]
rs4788667	1.00[AFR][1000 genomes]
rs59254438	1.00[AFR][1000 genomes]
rs6416744	1.00[AFR][1000 genomes]
rs6499575	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6499576	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6499578	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6499579	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6499581	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6499591	1.00[AFR][1000 genomes]
rs714101	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs714102	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7187123	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7192128	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7194567	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7199644	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7199653	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7203205	0.96[ASN][1000 genomes]
rs7203232	0.88[ASN][1000 genomes]
rs7206490	1.00[AFR][1000 genomes]
rs740176	1.00[AFR][1000 genomes]
rs74028108	0.81[ASN][1000 genomes]
rs7405242	0.82[ASN][1000 genomes]
rs8044614	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8048815	0.83[ASN][1000 genomes]
rs8053419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9302640	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs982799	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9923006	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9924937	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9927280	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9933433	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs9934215	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9935202	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9935250	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9936708	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs999210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][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	chr16:72700000-72703400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:72700000-72704600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:72700000-72704800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:72700000-72705400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:72700000-72705600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:72700000-72705800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr16:72700200-72703800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:72700400-72705000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:72700400-72705600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr16:72700400-72706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:72700600-72704600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:72701200-72705200	Weak transcription	Dnd41	blood

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