Variant report

Variant	rs73998584
Chromosome Location	chr17:66949753-66949754
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10512521	1.00[ASN][1000 genomes]
rs16973450	1.00[ASN][1000 genomes]
rs55930112	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57208634	1.00[ASN][1000 genomes]
rs59948490	1.00[ASN][1000 genomes]
rs60049904	1.00[ASN][1000 genomes]
rs73364060	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8065139	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8077857	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8080055	1.00[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66948600-66950000	Flanking Active TSS	Liver	Liver
2	chr17:66948600-66950600	Active TSS	Psoas Muscle	Psoas
3	chr17:66948800-66951600	Active TSS	Brain Cingulate Gyrus	brain
4	chr17:66948800-66951600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr17:66948800-66951600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr17:66948800-66951800	Active TSS	Brain Anterior Caudate	brain
7	chr17:66948800-66951800	Active TSS	Stomach Smooth Muscle	stomach
8	chr17:66949000-66951600	Active TSS	Right Ventricle	heart
9	chr17:66949000-66951800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr17:66949200-66949800	Enhancers	Spleen	Spleen
11	chr17:66949200-66950000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr17:66949200-66950000	Flanking Active TSS	Ovary	ovary
13	chr17:66949200-66950600	Active TSS	Colon Smooth Muscle	Colon
14	chr17:66949200-66950600	Active TSS	Left Ventricle	heart
15	chr17:66949200-66950800	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr17:66949200-66951600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr17:66949400-66949800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:66949400-66949800	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr17:66949400-66949800	Flanking Active TSS	Fetal Heart	heart
20	chr17:66949400-66949800	Enhancers	Fetal Muscle Leg	muscle
21	chr17:66949400-66949800	Enhancers	Lung	lung
22	chr17:66949400-66949800	Flanking Active TSS	Right Atrium	heart
23	chr17:66949400-66949800	Enhancers	K562	blood
24	chr17:66949400-66950000	Flanking Active TSS	Fetal Lung	lung
25	chr17:66949400-66950200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:66949400-66950200	Flanking Active TSS	Osteobl	bone
27	chr17:66949400-66950400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:66949400-66950400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:66949400-66950800	Active TSS	Duodenum Mucosa	Duodenum
30	chr17:66949400-66951000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:66949400-66952000	Active TSS	Brain Angular Gyrus	brain
32	chr17:66949600-66949800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:66949600-66950000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr17:66949600-66950000	Active TSS	Colonic Mucosa	Colon
35	chr17:66949600-66950600	Active TSS	Fetal Muscle Trunk	muscle
36	chr17:66949600-66951600	Active TSS	Brain Substantia Nigra	brain
37	chr17:66949600-66951600	Active TSS	Fetal Stomach	stomach
38	chr17:66949600-66951600	Active TSS	Skeletal Muscle Female	skeletal muscle

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