Variant report

Variant	rs3812983
Chromosome Location	chr16:72817582-72817583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1035983	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1035984	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10400973	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10492826	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075940	0.81[AMR][1000 genomes]
rs12051226	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12051305	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12103361	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12595874	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12596196	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs12597202	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12597703	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs12598003	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598048	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598858	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12599442	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12599589	0.89[AMR][1000 genomes]
rs12600293	0.92[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12921040	1.00[EUR][1000 genomes]
rs13332877	0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13333025	0.86[AMR][1000 genomes]
rs1366846	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1429431	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1429432	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1429433	0.83[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs1429434	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1544964	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16971279	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971281	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971287	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971288	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971290	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971292	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971306	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971312	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16971314	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971315	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971318	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971321	1.00[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16971324	0.88[AMR][1000 genomes]
rs16971325	1.00[ASW][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs1859593	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1990096	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2040939	0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2040940	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2043022	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs2115625	1.00[EUR][1000 genomes]
rs2229286	1.00[ASW][hapmap];0.88[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2229290	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266932	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2266934	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2266935	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2266936	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266938	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266939	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2266941	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2266942	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266944	0.94[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2358805	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358811	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358812	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs292913	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292914	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292915	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292916	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292917	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292918	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292919	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292920	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292921	0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs292922	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292924	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292925	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292926	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292927	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292928	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292929	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs292930	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292931	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292932	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292933	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292934	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs292935	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292937	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292938	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292939	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292940	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292941	0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs292942	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292943	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292945	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs292946	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs292947	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4238966	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4278755	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs4788479	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788655	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4788657	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788663	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788664	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs4788666	0.88[AMR][1000 genomes]
rs4788667	1.00[ASW][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes]
rs4788669	0.89[AMR][1000 genomes]
rs59254438	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60974482	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6416744	1.00[ASW][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes]
rs6499578	0.89[AMR][1000 genomes]
rs6499579	1.00[ASW][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6499581	1.00[ASW][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6499591	1.00[ASW][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes]
rs6499592	0.86[AMR][1000 genomes]
rs6499593	0.88[AMR][1000 genomes]
rs714101	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs714102	1.00[ASW][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7187123	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7198782	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7203205	0.81[ASN][1000 genomes]
rs7203232	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7206490	0.88[AMR][1000 genomes]
rs740176	0.91[AMR][1000 genomes]
rs740177	0.82[MEX][hapmap]
rs74028108	0.98[ASN][1000 genomes]
rs8044614	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8053419	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs8059268	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs9302640	0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes]
rs982799	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9921081	0.86[AMR][1000 genomes]
rs9923006	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9927280	0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes]
rs9933433	0.94[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9934215	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs9936708	0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes]
rs999210	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1868	chr16:72801962-72820054	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72794800-72818000	Weak transcription	Aorta	Aorta
2	chr16:72798400-72817800	Weak transcription	HSMM	muscle
3	chr16:72806400-72820600	Weak transcription	Fetal Intestine Small	intestine
4	chr16:72810200-72821800	Weak transcription	Dnd41	blood
5	chr16:72810600-72821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:72810800-72821000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:72812000-72820600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:72813600-72821000	Weak transcription	Left Ventricle	heart
9	chr16:72813800-72821800	Weak transcription	Fetal Heart	heart
10	chr16:72814200-72817600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr16:72814200-72817600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:72814200-72821000	Weak transcription	Fetal Stomach	stomach
13	chr16:72815200-72819800	Weak transcription	Small Intestine	intestine
14	chr16:72815200-72821000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:72815400-72817600	Weak transcription	A549	lung
16	chr16:72815400-72818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:72815400-72821000	Weak transcription	NHEK	skin
18	chr16:72815600-72817600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:72815600-72819000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:72815800-72818800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:72816600-72821800	Weak transcription	Placenta	Placenta
22	chr16:72816800-72821000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:72817200-72821000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:72817400-72817600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:72817400-72818000	Enhancers	Stomach Smooth Muscle	stomach
26	chr16:72817400-72818400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:72817400-72818400	Enhancers	HepG2	liver
28	chr16:72817400-72818400	Enhancers	NH-A	brain
29	chr16:72817400-72818800	Enhancers	Osteobl	bone
30	chr16:72817400-72820600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:72817400-72820600	Weak transcription	HUVEC	blood vessel

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