Variant report

Variant	rs56216225
Chromosome Location	chr5:112476429-112476430
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10478111	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11241194	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13328205	0.87[ASN][1000 genomes]
rs1822490	0.88[ASN][1000 genomes]
rs2044237	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4705790	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55690053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55728256	0.91[AMR][1000 genomes];0.98[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	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60853585	0.85[ASN][1000 genomes]
rs61409374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73239115	0.88[ASN][1000 genomes]
rs73778948	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7722357	0.88[ASN][1000 genomes]
rs7725873	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7735738	0.85[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	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112458800-112476600	Weak transcription	NHEK	skin
4	chr5:112461400-112476800	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:112464800-112476800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:112467800-112476800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:112468200-112476600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:112469400-112477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
11	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart
12	chr5:112472400-112476600	Weak transcription	Esophagus	oesophagus
13	chr5:112474600-112476600	Weak transcription	Fetal Stomach	stomach
14	chr5:112474600-112476800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:112475200-112476600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:112475400-112476800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:112475600-112479200	Strong transcription	Liver	Liver
19	chr5:112475800-112479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:112476200-112476600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:112476200-112476800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:112476200-112477600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:112476200-112478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:112476200-112478400	Enhancers	NHDF-Ad	bronchial
25	chr5:112476200-112479400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:112476400-112476600	Genic enhancers	HMEC	breast
27	chr5:112476400-112476800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:112476400-112476800	Enhancers	Right Ventricle	heart
29	chr5:112476400-112477000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:112476400-112477000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:112476400-112477000	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:112476400-112477400	Genic enhancers	Ovary	ovary
33	chr5:112476400-112477400	Enhancers	Right Atrium	heart
34	chr5:112476400-112477400	Enhancers	NHLF	lung
35	chr5:112476400-112477600	Enhancers	Brain Substantia Nigra	brain
36	chr5:112476400-112478000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:112476400-112478000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:112476400-112478000	Enhancers	Left Ventricle	heart
39	chr5:112476400-112478200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:112476400-112478200	Enhancers	HSMMtube	muscle
41	chr5:112476400-112478600	Enhancers	Osteobl	bone

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