Variant report

Variant	rs1990334
Chromosome Location	chr17:66948955-66948956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10852773	0.82[ASN][1000 genomes]
rs10852774	0.82[ASN][1000 genomes]
rs10852776	0.82[ASN][1000 genomes]
rs11077818	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11077819	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11077852	0.82[ASN][1000 genomes]
rs1121077	0.81[ASN][1000 genomes]
rs11656365	0.84[EUR][1000 genomes]
rs11868372	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11869992	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12936488	0.82[ASN][1000 genomes]
rs12938677	0.82[ASN][1000 genomes]
rs12940203	0.82[ASN][1000 genomes]
rs12940209	0.82[ASN][1000 genomes]
rs12944603	0.82[ASN][1000 genomes]
rs12945526	0.82[ASN][1000 genomes]
rs1808280	0.81[EUR][1000 genomes]
rs1860445	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2041321	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2165839	0.81[EUR][1000 genomes]
rs2191214	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3744498	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3744499	0.96[EUR][1000 genomes]
rs4147944	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4147945	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4147946	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4147947	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4147948	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4147949	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4147950	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4147951	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4147953	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4147954	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4147957	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4147958	0.84[EUR][1000 genomes]
rs4147959	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4147960	0.88[EUR][1000 genomes]
rs4147961	0.86[EUR][1000 genomes]
rs4147963	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4147964	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4147968	0.96[EUR][1000 genomes]
rs4147970	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4147971	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4147972	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4147973	0.87[EUR][1000 genomes]
rs4968827	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968977	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968978	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58680324	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6501916	0.82[ASN][1000 genomes]
rs6501919	0.81[ASN][1000 genomes]
rs7207730	0.82[ASN][1000 genomes]
rs7210891	0.82[ASN][1000 genomes]
rs7217589	0.82[ASN][1000 genomes]
rs7225239	0.82[ASN][1000 genomes]
rs7225473	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7225771	0.82[ASN][1000 genomes]
rs8068037	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8070184	0.85[EUR][1000 genomes]
rs8072891	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8079972	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082257	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs887380	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9897075	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9916792	0.85[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	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	nsv1061151	chr17:66881617-66973917	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1066412	chr17:66897540-66954067	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1846502	chr17:66899261-66966274	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv908704	chr17:66925324-66959710	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66908000-66949000	Weak transcription	Right Ventricle	heart
2	chr17:66916200-66949000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr17:66916200-66949400	Weak transcription	Fetal Muscle Leg	muscle
4	chr17:66916400-66949200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr17:66916400-66949400	Weak transcription	Osteobl	bone
6	chr17:66933800-66949400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:66938800-66949200	Weak transcription	Left Ventricle	heart
8	chr17:66945000-66949600	Weak transcription	Fetal Stomach	stomach
9	chr17:66947400-66949200	Weak transcription	Spleen	Spleen
10	chr17:66947400-66949400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:66947600-66949400	Weak transcription	Brain Angular Gyrus	brain
12	chr17:66947600-66949400	Weak transcription	K562	blood
13	chr17:66948600-66949400	Active TSS	Right Atrium	heart
14	chr17:66948600-66950000	Flanking Active TSS	Liver	Liver
15	chr17:66948600-66950600	Active TSS	Psoas Muscle	Psoas
16	chr17:66948800-66949000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:66948800-66949000	Active TSS	Brain Hippocampus Middle	brain
18	chr17:66948800-66949000	Active TSS	Brain Substantia Nigra	brain
19	chr17:66948800-66949200	Active TSS	Adipose Nuclei	Adipose
20	chr17:66948800-66949200	Enhancers	Ovary	ovary
21	chr17:66948800-66949400	Enhancers	Fetal Heart	heart
22	chr17:66948800-66949400	Enhancers	Fetal Lung	lung
23	chr17:66948800-66951600	Active TSS	Brain Cingulate Gyrus	brain
24	chr17:66948800-66951600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr17:66948800-66951600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr17:66948800-66951800	Active TSS	Brain Anterior Caudate	brain
27	chr17:66948800-66951800	Active TSS	Stomach Smooth Muscle	stomach

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