Variant report

Variant	rs158539
Chromosome Location	chr20:52635867-52635868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11699406	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs158541	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158546	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158549	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158550	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs208642	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs208644	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299720	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs290384	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290386	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290388	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290390	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290417	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs290421	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290453	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290456	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290457	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290458	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290459	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290462	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290466	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs290471	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs378782	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71623	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52618800-52644400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:52631400-52637000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr20:52631400-52641400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:52631600-52636000	Weak transcription	NHDF-Ad	bronchial
6	chr20:52633000-52636000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr20:52633800-52636800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:52633800-52638600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr20:52633800-52641200	Weak transcription	Brain Angular Gyrus	brain
10	chr20:52634000-52638600	Weak transcription	Brain Anterior Caudate	brain
11	chr20:52634800-52645400	Weak transcription	Fetal Lung	lung
12	chr20:52635000-52636000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr20:52635000-52637200	Weak transcription	Brain Hippocampus Middle	brain
14	chr20:52635200-52636000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr20:52635400-52636400	Enhancers	GM12878-XiMat	blood
16	chr20:52635800-52636600	Enhancers	Stomach Mucosa	stomach
17	chr20:52635800-52641800	Enhancers	Brain Substantia Nigra	brain

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