Variant report

Variant	rs4705787
Chromosome Location	chr5:112466317-112466318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10040400	0.80[ASN][1000 genomes]
rs10067901	0.86[ASN][1000 genomes]
rs10074318	0.81[ASN][1000 genomes]
rs10478110	0.90[ASN][1000 genomes]
rs11241191	0.90[ASN][1000 genomes]
rs11241192	0.90[ASN][1000 genomes]
rs11241193	0.92[ASN][1000 genomes]
rs11743369	0.88[ASN][1000 genomes]
rs11953203	0.90[ASN][1000 genomes]
rs12188482	0.91[ASN][1000 genomes]
rs12517185	0.90[ASN][1000 genomes]
rs12517187	0.90[ASN][1000 genomes]
rs12523053	0.80[ASN][1000 genomes]
rs13156718	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13170088	0.84[EUR][1000 genomes]
rs13174483	0.91[ASN][1000 genomes]
rs13179421	0.88[ASN][1000 genomes]
rs13183638	0.91[ASN][1000 genomes]
rs13184187	0.91[ASN][1000 genomes]
rs13190424	0.85[EUR][1000 genomes]
rs36041392	0.91[ASN][1000 genomes]
rs3884576	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3922563	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3922583	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3922584	0.84[EUR][1000 genomes]
rs3922585	0.84[EUR][1000 genomes]
rs4078253	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4078254	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4235793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4262097	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705542	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4705543	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4705544	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705546	0.86[EUR][1000 genomes]
rs4705780	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4705782	0.85[EUR][1000 genomes]
rs4705783	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4705786	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374710	0.90[ASN][1000 genomes]
rs6594683	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6859963	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6869399	0.88[ASN][1000 genomes]
rs6883605	0.86[EUR][1000 genomes]
rs7700271	0.90[ASN][1000 genomes]
rs7704382	0.90[ASN][1000 genomes]
rs7707142	0.85[ASN][1000 genomes]
rs7731180	0.89[ASN][1000 genomes]
rs9326877	0.90[ASN][1000 genomes]
rs9326878	0.90[ASN][1000 genomes]
rs9326879	0.80[ASN][1000 genomes]
rs9885385	0.90[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112456600-112467200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:112458400-112474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112458600-112474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112458800-112476600	Weak transcription	NHEK	skin
7	chr5:112459400-112468400	Weak transcription	NHDF-Ad	bronchial
8	chr5:112460800-112466800	Weak transcription	Fetal Brain Male	brain
9	chr5:112460800-112467400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112461000-112466600	Weak transcription	Right Atrium	heart
11	chr5:112461200-112469400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:112461400-112466600	Weak transcription	Right Ventricle	heart
13	chr5:112461400-112468400	Weak transcription	Ovary	ovary
14	chr5:112461400-112476800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:112461800-112476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:112462000-112467400	Weak transcription	Adipose Nuclei	Adipose
17	chr5:112462200-112466600	Weak transcription	Fetal Heart	heart
18	chr5:112462200-112475600	Weak transcription	Liver	Liver
19	chr5:112462600-112476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:112464600-112468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:112464800-112467200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:112464800-112468200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:112464800-112470000	Weak transcription	Fetal Brain Female	brain
24	chr5:112464800-112476800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:112465000-112467200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:112465200-112476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:112466000-112467400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:112466200-112466400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr5:112466200-112467600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:112466200-112467600	Enhancers	Left Ventricle	heart
31	chr5:112466200-112467800	Enhancers	Psoas Muscle	Psoas

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