Variant report

Variant	rs2822443
Chromosome Location	chr21:15599118-15599119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2080099	0.84[AFR][1000 genomes]
rs62226933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73890745	0.87[ASN][1000 genomes]
rs73890756	0.84[ASN][1000 genomes]
rs73890758	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv913402	chr21:15545350-15606128	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1056588	chr21:15583231-15615520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1066738	chr21:15587815-15642948	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr21:15589200-15600800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:15589600-15601200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr21:15589600-15601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr21:15589800-15599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:15589800-15600400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr21:15589800-15600600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr21:15589800-15600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:15589800-15601200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr21:15589800-15601200	Weak transcription	Fetal Brain Female	brain
10	chr21:15596200-15600600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:15596400-15600800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:15597000-15599400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr21:15598800-15599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr21:15599000-15599600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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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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