Variant report

Variant	rs55690053
Chromosome Location	chr5:112470329-112470330
allele	C/G
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];1.00[ASN][1000 genomes]
rs11241194	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13328205	0.88[ASN][1000 genomes]
rs1822490	0.89[ASN][1000 genomes]
rs2044237	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4705790	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55728256	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56216225	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57044242	0.86[ASN][1000 genomes]
rs58169183	0.89[ASN][1000 genomes]
rs58531861	0.87[EUR][1000 genomes]
rs59494679	0.86[ASN][1000 genomes]
rs59915546	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60853585	0.86[ASN][1000 genomes]
rs61409374	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239115	0.89[ASN][1000 genomes]
rs73778948	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722357	0.89[ASN][1000 genomes]
rs7725873	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7735738	0.86[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112458400-112474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112458600-112474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112458800-112476600	Weak transcription	NHEK	skin
6	chr5:112461400-112476800	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:112461800-112476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:112462200-112475600	Weak transcription	Liver	Liver
9	chr5:112462600-112476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:112464800-112476800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:112465200-112476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:112467400-112475800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:112467400-112476200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:112467600-112476400	Weak transcription	Left Ventricle	heart
16	chr5:112467600-112476400	Weak transcription	Right Atrium	heart
17	chr5:112467800-112476800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:112468200-112476600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:112468600-112470800	Enhancers	Fetal Brain Male	brain
20	chr5:112469200-112476200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:112469200-112476400	Weak transcription	Ovary	ovary
22	chr5:112469400-112470600	Enhancers	Fetal Heart	heart
23	chr5:112469400-112477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney

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