Variant report

Variant	rs2952308
Chromosome Location	chr17:66579189-66579190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2907385	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9675199	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:37 , 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	chr17:66575800-66579400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr17:66576200-66581800	Weak transcription	Lung	lung
10	chr17:66576200-66581800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:66576400-66581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:66576600-66579600	Enhancers	HepG2	liver
13	chr17:66576600-66580800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:66576800-66581200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:66576800-66588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:66577000-66580800	Weak transcription	Fetal Kidney	kidney
17	chr17:66577000-66581200	Weak transcription	Esophagus	oesophagus
18	chr17:66577200-66579600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:66577200-66581000	Weak transcription	Ovary	ovary
20	chr17:66577200-66584600	Weak transcription	Fetal Thymus	thymus
21	chr17:66577200-66592600	Weak transcription	Right Ventricle	heart
22	chr17:66577400-66580800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:66577400-66581800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:66577600-66581000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:66578000-66580800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:66578200-66580400	Genic enhancers	Liver	Liver
27	chr17:66578200-66584800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr17:66578200-66594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr17:66578400-66579600	Enhancers	Fetal Lung	lung
30	chr17:66578400-66580600	Weak transcription	NHDF-Ad	bronchial
31	chr17:66578600-66581800	Weak transcription	Placenta	Placenta
32	chr17:66578800-66580600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:66578800-66581800	Weak transcription	Pancreas	Pancrea
34	chr17:66579000-66580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:66579000-66580600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr17:66579000-66580600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:66579000-66581000	Weak transcription	Osteobl	bone

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