Variant report

Variant	rs16971288
Chromosome Location	chr16:72798917-72798918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs1035983	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1035984	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10400973	0.84[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes]
rs10492826	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11075940	0.82[AMR][1000 genomes]
rs12051226	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12051305	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12103361	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12595874	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12596196	0.91[AMR][1000 genomes]
rs12597202	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12597703	0.91[AMR][1000 genomes]
rs12598003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12598048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12598858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12599442	0.88[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12599589	0.91[AMR][1000 genomes]
rs12600293	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12921040	1.00[EUR][1000 genomes]
rs13332877	0.94[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13333025	0.85[AMR][1000 genomes]
rs1366846	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1429431	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1429432	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1429433	0.83[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs1429434	0.84[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes]
rs1544964	0.84[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes]
rs16971279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971306	0.88[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16971312	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16971314	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16971315	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16971318	0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16971321	0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971324	0.86[AMR][1000 genomes]
rs16971325	0.89[AMR][1000 genomes]
rs1859593	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1990096	0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2040939	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2040940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2043022	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes]
rs2115625	1.00[EUR][1000 genomes]
rs2229286	0.88[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2229290	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2266932	0.94[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2266934	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2266935	0.84[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2266936	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2266938	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2266939	0.89[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2266941	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2266942	0.89[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2266944	0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358805	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2358811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2358812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs292913	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292914	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292915	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292916	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292917	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292918	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292919	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292920	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292921	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs292922	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292923	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292924	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292925	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292926	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292927	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292928	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292929	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs292930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs292940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292941	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292942	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs292943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs292945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812983	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4238966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4278755	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes]
rs4788479	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788655	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788657	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788663	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788664	0.88[AMR][1000 genomes]
rs4788666	0.89[AMR][1000 genomes]
rs4788667	0.88[AMR][1000 genomes]
rs4788669	0.88[AMR][1000 genomes]
rs59254438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60974482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6416744	0.88[AMR][1000 genomes]
rs6499578	0.91[AMR][1000 genomes]
rs6499579	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes]
rs6499581	0.83[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes]
rs6499591	0.88[AMR][1000 genomes]
rs6499592	0.88[AMR][1000 genomes]
rs6499593	0.89[AMR][1000 genomes]
rs714101	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs714102	0.94[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7187123	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7198782	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7203232	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7206490	0.86[AMR][1000 genomes]
rs740176	0.89[AMR][1000 genomes]
rs74028108	0.96[ASN][1000 genomes]
rs8044614	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8053419	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs8059268	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs9302640	0.88[CHB][hapmap];0.87[JPT][hapmap];1.00[EUR][1000 genomes]
rs982799	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9921081	0.85[AMR][1000 genomes]
rs9923006	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9927280	0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs9933433	0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9934215	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes]
rs9936708	0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs999210	0.84[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72783800-72810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72793600-72802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:72794800-72818000	Weak transcription	Aorta	Aorta
4	chr16:72795400-72802400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr16:72797800-72799000	Enhancers	Fetal Lung	lung
6	chr16:72797800-72799400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:72798000-72800200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:72798000-72802200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:72798200-72802800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr16:72798400-72802200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:72798400-72802400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:72798400-72802400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:72798400-72802400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr16:72798400-72817800	Weak transcription	HSMM	muscle
15	chr16:72798600-72800000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:72798600-72800400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:72798800-72802400	Weak transcription	Fetal Kidney	kidney
18	chr16:72798800-72815600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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