Variant report

Variant	rs4705789
Chromosome Location	chr5:112471467-112471468
allele	A/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:21)

rs_ID	r²[population]
rs10463646	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13168126	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13170088	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13183116	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13190040	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13190424	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2044238	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2044239	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2165930	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2416303	0.83[EUR][1000 genomes]
rs35334140	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3922585	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4705546	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4705782	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4705794	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4705795	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4705797	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6883605	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7720549	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7720866	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7726679	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][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:23 , 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	chr5:112469200-112476200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:112469200-112476400	Weak transcription	Ovary	ovary
21	chr5:112469400-112477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
23	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart

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