Variant report

Variant	rs16973066
Chromosome Location	chr17:66580848-66580849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11649965	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655376	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11655628	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12938535	0.96[ASN][1000 genomes]
rs12938644	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947816	0.96[ASN][1000 genomes]
rs3826431	0.96[ASN][1000 genomes]
rs67810719	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68007754	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66539200-66588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:66551800-66587800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:66552000-66584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:66552000-66585200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr17:66572200-66591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:66572600-66581200	Weak transcription	Gastric	stomach
7	chr17:66572800-66582800	Weak transcription	Brain Angular Gyrus	brain
8	chr17:66576200-66581800	Weak transcription	Lung	lung
9	chr17:66576200-66581800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:66576400-66581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:66576800-66581200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:66576800-66588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:66577000-66581200	Weak transcription	Esophagus	oesophagus
14	chr17:66577200-66581000	Weak transcription	Ovary	ovary
15	chr17:66577200-66584600	Weak transcription	Fetal Thymus	thymus
16	chr17:66577200-66592600	Weak transcription	Right Ventricle	heart
17	chr17:66577400-66581800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:66577600-66581000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:66578200-66584800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr17:66578200-66594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr17:66578600-66581800	Weak transcription	Placenta	Placenta
22	chr17:66578800-66581800	Weak transcription	Pancreas	Pancrea
23	chr17:66579000-66581000	Weak transcription	Osteobl	bone
24	chr17:66580000-66582000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr17:66580400-66581600	Enhancers	Liver	Liver
26	chr17:66580400-66583400	Enhancers	HepG2	liver
27	chr17:66580600-66581400	Enhancers	Fetal Stomach	stomach
28	chr17:66580600-66581400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr17:66580600-66581800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:66580600-66582600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:66580600-66582800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:66580600-66582800	Enhancers	NHDF-Ad	bronchial
33	chr17:66580600-66584600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:66580800-66581000	Enhancers	Fetal Lung	lung
35	chr17:66580800-66581400	Enhancers	Fetal Kidney	kidney
36	chr17:66580800-66582000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:66580800-66582000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:66580800-66582400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr17:66580800-66582400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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