Variant report

Variant	rs132316
Chromosome Location	chr22:29562853-29562854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs132308	0.97[EUR][1000 genomes]
rs132311	0.91[EUR][1000 genomes]
rs132312	0.97[EUR][1000 genomes]
rs132313	0.86[EUR][1000 genomes]
rs132314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132315	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs132317	0.97[EUR][1000 genomes]
rs132321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132323	0.97[EUR][1000 genomes]
rs132341	0.85[EUR][1000 genomes]
rs132348	0.85[EUR][1000 genomes]
rs132350	0.82[EUR][1000 genomes]
rs132351	0.82[EUR][1000 genomes]
rs132354	0.82[EUR][1000 genomes]
rs132358	0.86[ASN][1000 genomes]
rs132366	0.82[EUR][1000 genomes]
rs132367	0.82[EUR][1000 genomes]
rs132370	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs132373	0.82[EUR][1000 genomes]
rs132378	0.82[EUR][1000 genomes]
rs132380	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs469984	0.97[EUR][1000 genomes]
rs469985	0.82[EUR][1000 genomes]
rs713924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29554600-29563400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:29561200-29566000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr22:29561400-29563000	Enhancers	Dnd41	blood
4	chr22:29561400-29563200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:29561600-29564000	Enhancers	Spleen	Spleen
6	chr22:29561800-29564000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:29561800-29564600	Enhancers	Primary B cells from peripheral blood	blood
8	chr22:29562200-29563000	Bivalent Enhancer	Primary B cells from cord blood	blood
9	chr22:29562200-29564000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr22:29562400-29563400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:29562400-29563800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr22:29562400-29564000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:29562400-29564200	Enhancers	Fetal Thymus	thymus
14	chr22:29562400-29566800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:29562600-29564000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr22:29562600-29565000	Enhancers	Primary hematopoietic stem cells	blood
17	chr22:29562800-29563000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr22:29562800-29563600	Flanking Active TSS	GM12878-XiMat	blood
19	chr22:29562800-29563800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr22:29562800-29564000	Enhancers	Primary T helper cells PMA-I stimulated	--

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