Variant report

Variant	rs469983
Chromosome Location	chr22:29554183-29554184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12628033	1.00[ASN][1000 genomes]
rs12628352	1.00[ASN][1000 genomes]
rs132292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132294	0.96[GIH][hapmap]
rs132296	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132299	0.82[CEU][hapmap]
rs132300	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs132304	1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.85[ASN][1000 genomes]
rs2301445	0.81[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2301446	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs2347996	0.98[ASN][1000 genomes]
rs3884934	0.91[ASN][1000 genomes]
rs4035128	0.91[ASN][1000 genomes]
rs4823016	0.91[ASN][1000 genomes]
rs4823018	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5752871	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5763006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997447	0.85[ASN][1000 genomes]
rs9625722	0.91[ASN][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29550600-29554200	Weak transcription	Thymus	Thymus
2	chr22:29550800-29554200	Weak transcription	Fetal Intestine Small	intestine
3	chr22:29551000-29554200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:29551000-29554200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:29551000-29554200	Weak transcription	HepG2	liver
6	chr22:29551200-29561400	Weak transcription	Dnd41	blood
7	chr22:29553200-29554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:29553800-29554600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:29553800-29554800	Enhancers	GM12878-XiMat	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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