Variant report

Variant	rs1080499
Chromosome Location	chr17:66906879-66906880
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]
rs4147978	0.96[EUR][1000 genomes]
rs4147981	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4147982	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4147983	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4147987	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4147991	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56285038	0.96[EUR][1000 genomes];0.92[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66877800-66918200	Weak transcription	Fetal Brain Male	brain
2	chr17:66902200-66907800	Enhancers	Brain Substantia Nigra	brain
3	chr17:66902400-66907800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:66902800-66908000	Enhancers	HepG2	liver
5	chr17:66903000-66907800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:66903200-66907000	Enhancers	HMEC	breast
7	chr17:66903200-66908200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr17:66903800-66907600	Enhancers	Colon Smooth Muscle	Colon
9	chr17:66904200-66907200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:66904200-66907200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:66904200-66907400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:66904400-66907200	Enhancers	Osteobl	bone
13	chr17:66904400-66907400	Enhancers	NHLF	lung
14	chr17:66904600-66911600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:66905000-66907000	Enhancers	HSMM	muscle
16	chr17:66905200-66907000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr17:66905200-66907600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:66905200-66907800	Enhancers	Brain Cingulate Gyrus	brain
19	chr17:66905400-66907200	Genic enhancers	Fetal Lung	lung
20	chr17:66905600-66907000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:66905600-66907200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:66905600-66907200	Genic enhancers	Liver	Liver
23	chr17:66905600-66907200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr17:66905600-66907400	Enhancers	NHEK	skin
25	chr17:66905600-66908200	Enhancers	Brain Angular Gyrus	brain
26	chr17:66905800-66907200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:66905800-66907400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:66905800-66907400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:66905800-66907800	Enhancers	NHDF-Ad	bronchial
30	chr17:66905800-66922200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:66906000-66907200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:66906200-66907000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr17:66906200-66907000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr17:66906200-66907200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:66906200-66907400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:66906200-66907400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr17:66906200-66907600	Enhancers	Placenta	Placenta
38	chr17:66906200-66907600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr17:66906400-66907000	Enhancers	Brain Germinal Matrix	brain
40	chr17:66906400-66907000	Enhancers	Fetal Heart	heart
41	chr17:66906400-66907000	Enhancers	Spleen	Spleen
42	chr17:66906400-66907200	Genic enhancers	Fetal Stomach	stomach
43	chr17:66906400-66907200	Enhancers	Ovary	ovary
44	chr17:66906400-66907400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr17:66906400-66907400	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr17:66906400-66907400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr17:66906400-66907600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:66906400-66907600	Enhancers	Esophagus	oesophagus
49	chr17:66906400-66907800	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr17:66906400-66907800	Enhancers	Lung	lung

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