Variant report

Variant	rs73901972
Chromosome Location	chr20:24318195-24318196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55887968	0.86[AFR][1000 genomes]
rs56347325	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56354135	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56729487	1.00[AMR][1000 genomes]
rs57296566	1.00[AMR][1000 genomes]
rs59063859	1.00[AMR][1000 genomes]
rs6036827	1.00[AMR][1000 genomes]
rs60662841	1.00[AMR][1000 genomes]
rs60856209	1.00[AMR][1000 genomes]
rs61505903	1.00[AMR][1000 genomes]
rs7262897	1.00[AMR][1000 genomes]
rs7265574	1.00[AMR][1000 genomes]
rs7269292	1.00[AMR][1000 genomes]
rs7274088	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901828	1.00[AMR][1000 genomes]
rs73901836	1.00[AMR][1000 genomes]
rs73901839	1.00[AMR][1000 genomes]
rs73901842	1.00[AMR][1000 genomes]
rs73901843	1.00[AMR][1000 genomes]
rs73901845	1.00[AMR][1000 genomes]
rs73901846	1.00[AMR][1000 genomes]
rs73901848	1.00[AMR][1000 genomes]
rs73901849	1.00[AMR][1000 genomes]
rs73901971	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901973	1.00[AMR][1000 genomes]
rs73901974	1.00[AMR][1000 genomes]
rs73901975	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901980	1.00[AMR][1000 genomes]
rs73902001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73905409	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8115937	1.00[AMR][1000 genomes]
rs8120500	0.92[AFR][1000 genomes];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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833945	chr20:24163437-24349462	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24316400-24319800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr20:24316800-24322600	Enhancers	NHEK	skin
3	chr20:24317400-24318400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr20:24317400-24319200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr20:24317400-24322200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:24317400-24322200	Enhancers	HMEC	breast
7	chr20:24317600-24319000	Enhancers	Primary hematopoietic stem cells	blood
8	chr20:24317600-24319600	Enhancers	Dnd41	blood
9	chr20:24317600-24320600	Enhancers	NH-A	brain
10	chr20:24317600-24322200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr20:24317800-24318200	Enhancers	Ovary	ovary
12	chr20:24317800-24318200	Enhancers	Thymus	Thymus
13	chr20:24317800-24318600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:24317800-24318600	Enhancers	Primary T cells from cord blood	blood
15	chr20:24317800-24322600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:24318000-24318600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:24318000-24318600	Enhancers	NHLF	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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