Variant report

Variant	rs73778948
Chromosome Location	chr5:112480673-112480674
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10478111	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11241194	0.95[ASN][1000 genomes]
rs13328205	0.87[ASN][1000 genomes]
rs1822490	0.88[ASN][1000 genomes]
rs2044237	0.95[ASN][1000 genomes]
rs4705790	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55690053	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55728256	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56216225	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57044242	0.85[ASN][1000 genomes]
rs58169183	0.88[ASN][1000 genomes]
rs58531861	0.83[EUR][1000 genomes]
rs59494679	0.85[ASN][1000 genomes]
rs59915546	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60853585	0.85[ASN][1000 genomes]
rs61409374	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73239115	0.88[ASN][1000 genomes]
rs7722357	0.88[ASN][1000 genomes]
rs7725873	0.95[ASN][1000 genomes]
rs7735738	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1850895	chr5:112479748-112481426	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
3	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart
4	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:112477000-112483200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:112477200-112483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:112477200-112485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:112477400-112481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:112477400-112482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:112477400-112482400	Weak transcription	Adipose Nuclei	Adipose
11	chr5:112477400-112482600	Weak transcription	NHLF	lung
12	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
14	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
16	chr5:112477600-112481200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:112477600-112482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:112477600-112482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:112477600-112482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:112477600-112483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:112477800-112482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:112478000-112482400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:112478000-112483000	Weak transcription	Left Ventricle	heart
24	chr5:112478000-112485600	Weak transcription	Pancreas	Pancrea
25	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:112478200-112480800	Weak transcription	Esophagus	oesophagus
27	chr5:112478200-112482400	Weak transcription	HSMMtube	muscle
28	chr5:112478400-112480800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:112478400-112482400	Weak transcription	NHDF-Ad	bronchial
30	chr5:112478400-112483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:112478600-112480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:112478600-112481600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:112478600-112481600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:112478600-112481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:112478600-112481800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:112478600-112482000	Weak transcription	Osteobl	bone
37	chr5:112478600-112483000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:112478800-112482000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:112478800-112483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:112479200-112485200	Weak transcription	Liver	Liver
41	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
42	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:112479600-112481000	Weak transcription	Primary T cells from cord blood	blood
44	chr5:112479600-112482000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:112479800-112485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:112480200-112481600	Enhancers	Ovary	ovary
47	chr5:112480400-112487200	Weak transcription	Right Ventricle	heart
48	chr5:112480600-112481200	Enhancers	NHEK	skin
49	chr5:112480600-112481400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:112480600-112482000	Enhancers	HMEC	breast

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