Variant report

Variant	rs3927994
Chromosome Location	chr12:10458790-10458791
allele	G/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:23)

rs_ID	r²[population]
rs11053738	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11053739	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11053740	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11611333	0.83[EUR][1000 genomes]
rs1600126	0.80[EUR][1000 genomes]
rs1600130	0.92[EUR][1000 genomes]
rs2302489	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2537752	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2537781	0.91[EUR][1000 genomes]
rs2617146	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759270	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3759272	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759273	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3867486	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3912117	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61242400	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7135494	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7301715	0.82[EUR][1000 genomes]
rs7313418	0.83[EUR][1000 genomes]
rs7314888	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7316530	0.82[EUR][1000 genomes]
rs7964452	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv605	chr12:10448638-10494208	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10453200-10461000	Weak transcription	Placenta	Placenta
2	chr12:10454800-10474400	Weak transcription	Left Ventricle	heart
3	chr12:10458000-10464200	Active TSS	Primary T cells fromperipheralblood	blood
4	chr12:10458200-10460600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:10458400-10458800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:10458400-10460400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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