Variant report

Variant	rs208383
Chromosome Location	chr20:52608401-52608402
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs176383	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs208361	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs208365	0.95[ASN][1000 genomes]
rs208366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs208381	0.98[ASN][1000 genomes]
rs208382	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6127048	0.85[AFR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52581200-52610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:52601400-52612400	Weak transcription	Brain Angular Gyrus	brain
4	chr20:52601400-52612400	Weak transcription	Brain Anterior Caudate	brain
5	chr20:52601800-52609800	Weak transcription	Brain Substantia Nigra	brain
6	chr20:52601800-52612400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr20:52601800-52630800	Weak transcription	Stomach Mucosa	stomach
8	chr20:52602000-52608800	Weak transcription	Fetal Stomach	stomach
9	chr20:52602800-52608800	Weak transcription	HSMMtube	muscle
10	chr20:52602800-52610000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr20:52604400-52618200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr20:52606800-52610600	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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