Variant report

Variant	rs28532517
Chromosome Location	chr20:23000652-23000653
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11905464	0.80[AFR][1000 genomes]
rs13045080	0.84[AFR][1000 genomes]
rs13306849	1.00[AMR][1000 genomes]
rs16984836	0.81[AFR][1000 genomes]
rs16984838	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34307615	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35888045	1.00[AMR][1000 genomes]
rs35902492	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35948817	1.00[AMR][1000 genomes]
rs36204270	1.00[AMR][1000 genomes]
rs41310177	1.00[AMR][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22991200-23002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr20:22996000-23006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:22998000-23000800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:22998400-23001200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr20:22998600-23001000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:22998800-23000800	Enhancers	Brain Germinal Matrix	brain
7	chr20:22998800-23001800	Weak transcription	Thymus	Thymus
8	chr20:22999000-23001000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr20:22999600-23001000	Enhancers	Brain Cingulate Gyrus	brain
10	chr20:22999600-23001000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr20:22999600-23001000	Enhancers	Brain Substantia Nigra	brain
12	chr20:22999800-23001000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:22999800-23001000	Enhancers	Brain Hippocampus Middle	brain
14	chr20:22999800-23001400	Enhancers	Fetal Muscle Leg	muscle
15	chr20:23000200-23000800	Weak transcription	Lung	lung
16	chr20:23000200-23001000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:23000200-23001600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr20:23000400-23000800	Enhancers	Brain Anterior Caudate	brain
19	chr20:23000400-23002000	Weak transcription	Dnd41	blood

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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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