Variant report

Variant	rs12810039
Chromosome Location	chr17:66976325-66976326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10400552	0.89[AMR][1000 genomes]
rs10785366	0.83[AMR][1000 genomes]
rs10880194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880234	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880321	0.81[AMR][1000 genomes]
rs11179436	0.80[EUR][1000 genomes]
rs11179579	0.80[EUR][1000 genomes]
rs11180482	0.82[EUR][1000 genomes]
rs11180504	0.83[EUR][1000 genomes]
rs11180549	0.83[EUR][1000 genomes]
rs11180579	0.84[EUR][1000 genomes]
rs11180821	0.81[EUR][1000 genomes]
rs11180825	0.85[EUR][1000 genomes]
rs11181210	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11181230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11181243	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181244	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181245	0.87[EUR][1000 genomes]
rs11181246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11181294	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11181310	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181337	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11181343	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11181475	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11181526	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11181620	0.81[EUR][1000 genomes]
rs11181643	0.93[AMR][1000 genomes]
rs11181657	0.89[AMR][1000 genomes]
rs11181684	0.90[AMR][1000 genomes]
rs11181685	0.89[AMR][1000 genomes]
rs11495369	0.83[EUR][1000 genomes]
rs11495374	0.98[EUR][1000 genomes]
rs11495375	0.98[EUR][1000 genomes]
rs11495396	0.93[AMR][1000 genomes]
rs11495699	0.99[EUR][1000 genomes]
rs11495714	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11495720	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11514040	0.80[EUR][1000 genomes]
rs11514056	0.93[EUR][1000 genomes]
rs11514057	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11514063	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11514071	0.90[AMR][1000 genomes]
rs11514339	0.83[EUR][1000 genomes]
rs11514342	0.83[EUR][1000 genomes]
rs11514348	0.85[EUR][1000 genomes]
rs11514369	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11514370	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11514371	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11514372	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11519905	0.80[EUR][1000 genomes]
rs11519907	0.80[EUR][1000 genomes]
rs11519914	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11519916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11519923	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11519926	0.88[EUR][1000 genomes]
rs11520199	0.80[EUR][1000 genomes]
rs11520218	0.80[EUR][1000 genomes]
rs11520237	0.94[EUR][1000 genomes]
rs11520260	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11520261	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11520262	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11520266	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11520276	0.88[AMR][1000 genomes]
rs11520277	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11520278	0.86[EUR][1000 genomes]
rs11520279	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11522896	0.83[EUR][1000 genomes]
rs11522898	0.95[EUR][1000 genomes]
rs11522899	0.96[EUR][1000 genomes]
rs11525003	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11525004	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11610978	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11611861	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11612125	0.80[EUR][1000 genomes]
rs11612397	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11613378	0.80[EUR][1000 genomes]
rs11614397	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12099650	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12146734	0.83[EUR][1000 genomes]
rs12366667	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12366727	0.85[EUR][1000 genomes]
rs12368410	0.98[EUR][1000 genomes]
rs12368462	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12368889	0.93[EUR][1000 genomes]
rs12369117	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12370982	0.96[EUR][1000 genomes]
rs12371956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12372025	0.80[EUR][1000 genomes]
rs12578283	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12581130	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12582285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12819814	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12832407	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1581356	0.89[AMR][1000 genomes]
rs1581357	0.90[AMR][1000 genomes]
rs1596446	0.92[EUR][1000 genomes]
rs1607867	0.90[AMR][1000 genomes]
rs1607868	0.90[AMR][1000 genomes]
rs1607878	0.91[AMR][1000 genomes]
rs1607882	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1829588	0.89[AMR][1000 genomes]
rs1851121	0.89[AMR][1000 genomes]
rs1949610	0.90[AMR][1000 genomes]
rs1949611	0.84[AMR][1000 genomes]
rs2139752	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2320521	0.87[EUR][1000 genomes]
rs2320522	0.85[EUR][1000 genomes]
rs2387317	0.83[EUR][1000 genomes]
rs2387603	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2387808	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2387809	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2387810	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2387811	0.83[EUR][1000 genomes]
rs2387812	0.93[AMR][1000 genomes]
rs2387813	0.92[AMR][1000 genomes]
rs2874289	0.93[EUR][1000 genomes]
rs2874290	0.85[EUR][1000 genomes]
rs2874292	0.80[EUR][1000 genomes]
rs2874343	0.82[EUR][1000 genomes]
rs34438288	0.80[EUR][1000 genomes]
rs35336822	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3902522	0.88[EUR][1000 genomes]
rs3910796	0.81[EUR][1000 genomes]
rs3922574	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4379906	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4385963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4516042	0.90[EUR][1000 genomes]
rs4598730	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4882289	0.87[AMR][1000 genomes]
rs4882874	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55704775	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55962152	0.83[EUR][1000 genomes]
rs66855609	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67889662	0.93[EUR][1000 genomes]
rs7294298	0.89[EUR][1000 genomes]
rs7294300	0.96[EUR][1000 genomes]
rs7304438	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7305409	0.87[EUR][1000 genomes]
rs7308714	0.95[EUR][1000 genomes]
rs73112346	0.86[EUR][1000 genomes]
rs7311462	0.93[EUR][1000 genomes]
rs7312204	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7312212	0.90[EUR][1000 genomes]
rs7313608	0.84[AMR][1000 genomes]
rs8175764	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8186658	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8186812	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8186814	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8186824	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8186881	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8186891	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8186948	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8186954	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8186988	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8186992	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8189445	0.93[EUR][1000 genomes]
rs8189461	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8189464	0.95[EUR][1000 genomes]
rs8189467	0.81[EUR][1000 genomes]
rs8189486	0.84[EUR][1000 genomes]
rs8189516	0.82[EUR][1000 genomes]
rs8189549	0.84[EUR][1000 genomes]
rs8189561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8189597	0.97[EUR][1000 genomes]
rs8189609	0.97[EUR][1000 genomes]
rs8189618	0.93[EUR][1000 genomes]
rs8189620	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv908700	chr17:66885526-66985992	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv908701	chr17:66888346-66978319	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1849165	chr17:66899261-66978319	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv908703	chr17:66904001-66978319	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66965600-66977600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr17:66965600-66980200	Weak transcription	Brain Anterior Caudate	brain
3	chr17:66965600-66986000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr17:66966200-66977200	Weak transcription	Fetal Muscle Leg	muscle
5	chr17:66968400-66977200	Weak transcription	NHDF-Ad	bronchial
6	chr17:66969200-66982800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr17:66969600-66977200	Weak transcription	HepG2	liver
8	chr17:66970800-66984000	Weak transcription	Spleen	Spleen
9	chr17:66971000-66987800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:66972400-66977400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr17:66972600-66981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:66972800-66977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:66973600-66980000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:66974000-66977000	Weak transcription	Adipose Nuclei	Adipose
15	chr17:66974000-66977200	Weak transcription	Fetal Lung	lung
16	chr17:66974000-66977200	Weak transcription	Ovary	ovary
17	chr17:66974000-66977200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr17:66974000-66977400	Weak transcription	Liver	Liver
19	chr17:66974000-66977600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:66974200-66976600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:66974200-66977200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:66974800-66977200	Weak transcription	Pancreas	Pancrea
23	chr17:66975600-66977200	Weak transcription	Brain Substantia Nigra	brain

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