Variant report

Variant	rs12166648
Chromosome Location	chr22:30556988-30556989
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12166580	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12167625	1.00[AMR][1000 genomes]
rs12168675	1.00[AMR][1000 genomes]
rs2285645	1.00[CEU][hapmap]
rs41479445	1.00[EUR][1000 genomes]
rs73400621	1.00[EUR][1000 genomes]
rs9620930	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9620939	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9625890	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9625903	1.00[EUR][1000 genomes]
rs9625907	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9625929	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9625934	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9625936	1.00[AMR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30553800-30558200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:30554600-30557200	Enhancers	Fetal Thymus	thymus
3	chr22:30554800-30557600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:30555000-30557200	Enhancers	A549	lung
5	chr22:30555000-30557600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr22:30555200-30557600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:30555400-30557400	Enhancers	Primary hematopoietic stem cells	blood
8	chr22:30555400-30558600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:30555600-30557400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:30555600-30557600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:30555600-30558200	Enhancers	Thymus	Thymus
12	chr22:30555800-30557200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr22:30555800-30558200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr22:30556200-30557400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr22:30556400-30557800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:30556600-30558200	Enhancers	Dnd41	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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