Variant report

Variant	rs4147991
Chromosome Location	chr17:66913372-66913373
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1080499	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4147978	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4147981	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4147982	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4147983	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4147987	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56285038	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	nsv908697	chr17:66885526-66913936	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv908698	chr17:66885526-66915598	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv908699	chr17:66885526-66933003	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv575928	chr17:66894861-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	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
12	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
13	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
14	nsv908702	chr17:66899290-66933003	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	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
16	nsv575929	chr17:66906217-66923711	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66877800-66918200	Weak transcription	Fetal Brain Male	brain
2	chr17:66905800-66922200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr17:66906600-66927400	Weak transcription	Aorta	Aorta
4	chr17:66906800-66928200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:66907000-66920600	Weak transcription	Fetal Heart	heart
6	chr17:66907000-66940800	Weak transcription	Spleen	Spleen
7	chr17:66907200-66923800	Strong transcription	Liver	Liver
8	chr17:66907400-66916200	Strong transcription	Ovary	ovary
9	chr17:66907600-66915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:66907800-66914400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:66907800-66919600	Weak transcription	Lung	lung
12	chr17:66907800-66923000	Weak transcription	Fetal Stomach	stomach
13	chr17:66908000-66914000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:66908000-66915800	Weak transcription	Brain Hippocampus Middle	brain
15	chr17:66908000-66922800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:66908000-66949000	Weak transcription	Right Ventricle	heart
17	chr17:66908200-66915800	Weak transcription	Brain Anterior Caudate	brain
18	chr17:66908200-66916000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr17:66908200-66930000	Weak transcription	Brain Angular Gyrus	brain
20	chr17:66908800-66919400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:66910400-66917000	Strong transcription	Fetal Lung	lung
22	chr17:66910800-66914200	Strong transcription	Adipose Nuclei	Adipose
23	chr17:66911000-66913800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr17:66911200-66913600	Strong transcription	Brain Substantia Nigra	brain
25	chr17:66911200-66921000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:66911400-66915000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:66911400-66916400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:66911600-66914000	Weak transcription	Fetal Muscle Leg	muscle
29	chr17:66911600-66916200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:66911800-66915200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr17:66911800-66916400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr17:66912200-66914400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:66912200-66915800	Weak transcription	Psoas Muscle	Psoas
34	chr17:66912400-66914000	Weak transcription	Left Ventricle	heart
35	chr17:66912400-66915800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr17:66912400-66928400	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:66913000-66914200	Strong transcription	Brain Cingulate Gyrus	brain
38	chr17:66913200-66916400	Strong transcription	Osteobl	bone

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