Variant report

Variant	rs2255392
Chromosome Location	chr20:22991602-22991603
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1005920	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1360408	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2746619	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22988400-22993400	Weak transcription	Aorta	Aorta
2	chr20:22988400-22995600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:22988800-22992000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:22990200-22992400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr20:22990800-22993200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:22990800-22994000	Weak transcription	HSMM	muscle
7	chr20:22990800-22994000	Weak transcription	NHEK	skin
8	chr20:22991000-22993200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:22991000-22993400	Weak transcription	Right Ventricle	heart
10	chr20:22991000-22994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr20:22991000-22994000	Weak transcription	HSMMtube	muscle
12	chr20:22991000-22995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:22991000-22995600	Weak transcription	Dnd41	blood
14	chr20:22991200-22993000	Weak transcription	A549	lung
15	chr20:22991200-22993600	Weak transcription	Lung	lung
16	chr20:22991200-22994000	Weak transcription	HMEC	breast
17	chr20:22991200-23002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr20:22991600-22992400	Enhancers	K562	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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