Variant report

Variant	rs7717569
Chromosome Location	chr5:108505337-108505338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11950761	0.81[ASN][1000 genomes]
rs3797844	1.00[ASN][1000 genomes]
rs3797847	1.00[ASN][1000 genomes]
rs3797848	1.00[ASN][1000 genomes]
rs3797849	1.00[ASN][1000 genomes]
rs3822685	1.00[ASN][1000 genomes]
rs59672639	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59812973	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884133	1.00[ASN][1000 genomes]
rs72796601	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798567	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798568	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709840	1.00[ASN][1000 genomes]
rs7714599	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718925	1.00[ASN][1000 genomes]
rs7729380	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108468800-108521800	Weak transcription	Aorta	Aorta
2	chr5:108476000-108519200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:108476200-108506800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
5	chr5:108495200-108506200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:108496000-108532800	Weak transcription	Ovary	ovary
7	chr5:108497600-108508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:108497800-108517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:108498800-108512600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:108499000-108513200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
12	chr5:108501000-108521800	Weak transcription	Primary T cells from cord blood	blood
13	chr5:108502200-108522200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:108503200-108526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:108503400-108507200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:108503600-108526200	Weak transcription	Fetal Heart	heart
17	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
18	chr5:108504200-108506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:108504400-108513600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:108504600-108505400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:108504600-108505600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:108504600-108506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:108504600-108506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:108504600-108506200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:108504600-108507000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:108504800-108506000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:108504800-108511200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:108505000-108505400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:108505000-108535200	Weak transcription	Pancreas	Pancrea

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