Variant report

Variant	rs9923542
Chromosome Location	chr16:48000768-48000769
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12103023	0.90[AMR][1000 genomes]
rs13330065	1.00[AMR][1000 genomes]
rs13330477	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337029	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28508022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3887008	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3899422	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184685	0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185342	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7190168	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7194254	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7196906	1.00[AMR][1000 genomes]
rs7198239	1.00[AMR][1000 genomes]
rs7199647	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200033	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202404	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016242	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016243	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016244	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016247	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016251	0.90[AMR][1000 genomes]
rs8044501	1.00[AMR][1000 genomes]
rs8050751	1.00[EUR][1000 genomes]
rs8053889	1.00[AMR][1000 genomes]
rs8056932	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934257	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935906	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938295	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939073	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940106	0.99[AFR][1000 genomes];1.00[AMR][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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr16:47997600-48001000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr16:47997600-48002000	Enhancers	Fetal Brain Male	brain
3	chr16:47998200-48001000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr16:47998400-48000800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr16:47998600-48001000	Enhancers	HMEC	breast
6	chr16:47999800-48001400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr16:48000000-48001000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:48000000-48001200	Enhancers	Fetal Brain Female	brain
9	chr16:48000200-48001600	Enhancers	Brain Germinal Matrix	brain

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