Variant report

Variant	rs16998745
Chromosome Location	chr20:52634866-52634867
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs158544	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs158547	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs158551	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs182345	0.87[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs208372	1.00[YRI][hapmap]
rs208373	0.83[YRI][hapmap]
rs208375	1.00[YRI][hapmap]
rs208386	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2276490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299716	0.88[EUR][1000 genomes]
rs290424	1.00[YRI][hapmap]
rs290460	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs290470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs457900	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs458739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58051555	0.88[EUR][1000 genomes]
rs6127064	0.88[EUR][1000 genomes]
rs61368357	0.83[EUR][1000 genomes]
rs73622293	0.83[EUR][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:20 , 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	chr20:52631400-52635800	Weak transcription	Stomach Mucosa	stomach
4	chr20:52631400-52637000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:52631400-52641400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:52631600-52636000	Weak transcription	NHDF-Ad	bronchial
7	chr20:52632000-52635000	Enhancers	Brain Hippocampus Middle	brain
8	chr20:52633000-52635000	Enhancers	Primary B cells from cord blood	blood
9	chr20:52633000-52635400	Enhancers	Primary B cells from peripheral blood	blood
10	chr20:52633000-52636000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr20:52633400-52635000	Enhancers	Adipose Nuclei	Adipose
12	chr20:52633400-52635000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr20:52633800-52636800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr20:52633800-52638600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr20:52633800-52641200	Weak transcription	Brain Angular Gyrus	brain
16	chr20:52634000-52638600	Weak transcription	Brain Anterior Caudate	brain
17	chr20:52634200-52635400	Flanking Active TSS	GM12878-XiMat	blood
18	chr20:52634400-52635200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr20:52634800-52635800	Weak transcription	Brain Substantia Nigra	brain
20	chr20:52634800-52645400	Weak transcription	Fetal Lung	lung

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