Variant report

Variant	rs926727
Chromosome Location	chr20:22997422-22997423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1042579	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11905464	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13045080	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3176123	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36011369	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][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:14 , 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	chr20:22994400-22999000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr20:22994600-22998800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr20:22995600-22998600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:22995600-22999200	Enhancers	Dnd41	blood
6	chr20:22996000-23006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:22996400-22998400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr20:22996600-22997600	Weak transcription	Fetal Thymus	thymus
9	chr20:22996600-22997600	Weak transcription	Thymus	Thymus
10	chr20:22996800-22998000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:22997200-22998600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:22997400-22997600	Enhancers	Brain Cingulate Gyrus	brain
13	chr20:22997400-22998000	Enhancers	Brain Substantia Nigra	brain
14	chr20:22997400-22998200	Enhancers	A549	lung

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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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