Variant report

Variant	rs2108453
Chromosome Location	chr20:52628853-52628854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10485439	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12329598	1.00[AMR][1000 genomes]
rs2021818	0.86[EUR][1000 genomes]
rs57324905	0.83[AMR][1000 genomes]
rs59007419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6091805	1.00[EUR][1000 genomes]
rs6097717	1.00[AMR][1000 genomes]
rs6097720	1.00[AMR][1000 genomes]
rs61754122	0.86[EUR][1000 genomes]
rs7269545	0.86[EUR][1000 genomes]
rs7273075	0.83[AMR][1000 genomes]
rs73914470	1.00[AMR][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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52601800-52630800	Weak transcription	Stomach Mucosa	stomach
3	chr20:52618800-52644400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr20:52619000-52630600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:52624000-52633400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:52624600-52630200	Weak transcription	Brain Anterior Caudate	brain
7	chr20:52626400-52630600	Weak transcription	Brain Hippocampus Middle	brain
8	chr20:52626800-52630000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr20:52627000-52630400	Weak transcription	Brain Substantia Nigra	brain
10	chr20:52627600-52633200	Weak transcription	Brain Angular Gyrus	brain
11	chr20:52628400-52631000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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