Variant report

Variant	rs73900468
Chromosome Location	chr20:22353814-22353815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55906911	1.00[AMR][1000 genomes]
rs55972046	1.00[AMR][1000 genomes]
rs59034302	1.00[AMR][1000 genomes]
rs59545487	1.00[AMR][1000 genomes]
rs60915459	1.00[AMR][1000 genomes]
rs73899961	1.00[AMR][1000 genomes]
rs73899962	1.00[AMR][1000 genomes]
rs73899964	1.00[AMR][1000 genomes]
rs73899965	1.00[AMR][1000 genomes]
rs73899966	1.00[AMR][1000 genomes]
rs73899967	1.00[AMR][1000 genomes]
rs73899994	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833942	chr20:22283122-22440749	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv437838	chr20:22323038-22357152	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv585720	chr20:22333108-22376421	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22334800-22354000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:22348400-22354800	Enhancers	Primary B cells from peripheral blood	blood
3	chr20:22348600-22354000	Enhancers	Primary hematopoietic stem cells	blood
4	chr20:22351200-22354000	Weak transcription	A549	lung
5	chr20:22353000-22354200	Weak transcription	Psoas Muscle	Psoas
6	chr20:22353000-22354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:22353000-22354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr20:22353000-22354800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr20:22353000-22355000	Enhancers	Primary B cells from cord blood	blood
10	chr20:22353200-22354200	Weak transcription	Primary T cells from cord blood	blood
11	chr20:22353200-22355400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr20:22353200-22355600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr20:22353400-22354400	Enhancers	Fetal Lung	lung
14	chr20:22353600-22354200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr20:22353600-22365800	Enhancers	HMEC	breast
16	chr20:22353800-22355400	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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