Variant report

Variant	rs713924
Chromosome Location	chr22:29563884-29563885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs132308	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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]
rs132316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs132350	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs132351	0.82[EUR][1000 genomes]
rs132354	0.82[EUR][1000 genomes]
rs132358	0.86[ASN][1000 genomes]
rs132366	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs132367	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs132370	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs132373	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs132377	1.00[CEU][hapmap]
rs132378	0.82[EUR][1000 genomes]
rs132379	0.82[CEU][hapmap]
rs132380	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs132382	1.00[CEU][hapmap]
rs132386	1.00[CEU][hapmap]
rs469984	0.97[EUR][1000 genomes]
rs469985	0.82[EUR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29561200-29566000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr22:29561600-29564000	Enhancers	Spleen	Spleen
3	chr22:29561800-29564000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:29561800-29564600	Enhancers	Primary B cells from peripheral blood	blood
5	chr22:29562200-29564000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr22:29562400-29564000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:29562400-29564200	Enhancers	Fetal Thymus	thymus
8	chr22:29562400-29566800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:29562600-29564000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr22:29562600-29565000	Enhancers	Primary hematopoietic stem cells	blood
11	chr22:29562800-29564000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr22:29563000-29564000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr22:29563000-29564000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr22:29563000-29564000	Enhancers	Thymus	Thymus
15	chr22:29563000-29564000	Flanking Active TSS	Dnd41	blood
16	chr22:29563000-29564200	Enhancers	Primary B cells from cord blood	blood
17	chr22:29563200-29564000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:29563200-29564000	Enhancers	Placenta	Placenta
19	chr22:29563600-29564000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr22:29563600-29564000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:29563600-29564000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr22:29563600-29565800	Enhancers	GM12878-XiMat	blood
23	chr22:29563800-29564000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr22:29563800-29564000	Enhancers	Primary T cells from cord blood	blood
25	chr22:29563800-29564000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr22:29563800-29564000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr22:29563800-29564000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr22:29563800-29565600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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