Variant report

Variant	rs4147948
Chromosome Location	chr17:66950453-66950454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10852773	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10852774	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10852776	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11077818	0.83[EUR][1000 genomes]
rs11077819	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11077852	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1121077	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1122265	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11656365	0.85[GIH][hapmap]
rs11868372	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11869992	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12936488	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12938677	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12940203	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12940209	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12944603	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12945526	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1344055	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1860445	0.84[EUR][1000 genomes]
rs1990334	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2041321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2159433	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2191214	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2364310	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3744498	0.80[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs3744499	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs4147944	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147946	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147947	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147949	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4147950	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4147951	0.88[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4147953	0.88[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4147954	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4147957	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4147959	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4147961	0.85[GIH][hapmap];0.81[TSI][hapmap]
rs4147963	0.83[EUR][1000 genomes]
rs4147964	0.83[EUR][1000 genomes]
rs4147967	0.82[CHB][hapmap]
rs4147968	0.84[CEU][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs4147970	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs4147971	0.82[EUR][1000 genomes]
rs4147972	0.82[EUR][1000 genomes]
rs4147973	0.88[CHB][hapmap]
rs4968827	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4968977	0.83[EUR][1000 genomes]
rs4968978	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4968980	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58680324	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6501916	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6501919	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6501920	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7207730	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7210891	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217589	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7221169	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7225239	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7225473	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7225771	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs764425	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs764426	0.83[EUR][1000 genomes]
rs8065455	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8068037	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8072891	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8079972	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8082257	0.81[EUR][1000 genomes]
rs887380	0.85[GIH][hapmap];0.81[TSI][hapmap]
rs9897075	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9905330	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9916792	0.96[EUR][1000 genomes];0.94[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66948600-66950600	Active TSS	Psoas Muscle	Psoas
2	chr17:66948800-66951600	Active TSS	Brain Cingulate Gyrus	brain
3	chr17:66948800-66951600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr17:66948800-66951600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr17:66948800-66951800	Active TSS	Brain Anterior Caudate	brain
6	chr17:66948800-66951800	Active TSS	Stomach Smooth Muscle	stomach
7	chr17:66949000-66951600	Active TSS	Right Ventricle	heart
8	chr17:66949000-66951800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr17:66949200-66950600	Active TSS	Colon Smooth Muscle	Colon
10	chr17:66949200-66950600	Active TSS	Left Ventricle	heart
11	chr17:66949200-66950800	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr17:66949200-66951600	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr17:66949400-66950800	Active TSS	Duodenum Mucosa	Duodenum
14	chr17:66949400-66951000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:66949400-66952000	Active TSS	Brain Angular Gyrus	brain
16	chr17:66949600-66950600	Active TSS	Fetal Muscle Trunk	muscle
17	chr17:66949600-66951600	Active TSS	Brain Substantia Nigra	brain
18	chr17:66949600-66951600	Active TSS	Fetal Stomach	stomach
19	chr17:66949600-66951600	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr17:66949800-66951000	Active TSS	Rectal Smooth Muscle	rectum
21	chr17:66949800-66951600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:66949800-66951600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:66949800-66951600	Active TSS	Fetal Muscle Leg	muscle
24	chr17:66949800-66952000	Active TSS	Brain Hippocampus Middle	brain
25	chr17:66949800-66952000	Active TSS	Right Atrium	heart
26	chr17:66950000-66951400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:66950000-66951600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr17:66950000-66951600	Active TSS	Adipose Nuclei	Adipose
29	chr17:66950000-66951600	Active TSS	Liver	Liver
30	chr17:66950000-66951600	Active TSS	Fetal Lung	lung
31	chr17:66950000-66952000	Active TSS	Ovary	ovary
32	chr17:66950400-66950600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:66950400-66950600	Flanking Active TSS	Fetal Heart	heart
34	chr17:66950400-66950600	Flanking Active TSS	K562	blood
35	chr17:66950400-66950600	Flanking Active TSS	Osteobl	bone
36	chr17:66950400-66950800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:66950400-66951400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:66950400-66951600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:66950400-66951600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:66950400-66951600	Active TSS	NHDF-Ad	bronchial
41	chr17:66950400-66951600	Active TSS	NHLF	lung

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