Variant report

Variant	rs12316579
Chromosome Location	chr12:45248071-45248072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10161447	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506258	0.81[EUR][1000 genomes]
rs10785536	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785537	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785540	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182754	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11504491	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11524561	0.87[AMR][1000 genomes]
rs11833874	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227370	0.93[EUR][1000 genomes]
rs12818329	0.86[EUR][1000 genomes]
rs1395397	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1605296	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1605297	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1605298	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17095127	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857927	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876241	0.82[AMR][1000 genomes]
rs2055675	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055676	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055677	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258058	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2408083	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408084	0.81[EUR][1000 genomes]
rs2408085	0.97[EUR][1000 genomes]
rs2465109	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2465110	0.81[AMR][1000 genomes]
rs2658951	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2658954	0.84[EUR][1000 genomes]
rs2658957	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2658959	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2658965	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2658966	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2710453	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710457	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2710459	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2710460	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2710461	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2710462	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238095	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4300447	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415832	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4499065	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4768075	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4768577	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768578	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55741117	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56892258	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57190502	0.93[EUR][1000 genomes]
rs74079970	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957052	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957160	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7971834	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7973268	0.97[EUR][1000 genomes]
rs7975618	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs884259	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs884260	0.90[AMR][1000 genomes];0.84[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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45240200-45248400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45242400-45248600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45242600-45248400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:45242800-45252200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:45243800-45250600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:45243800-45251600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:45245200-45248600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:45246600-45250200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:45247400-45249000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:45247400-45249200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:45247400-45253600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:45247600-45249200	Enhancers	Fetal Brain Male	brain
13	chr12:45247800-45250200	Weak transcription	Fetal Brain Female	brain
14	chr12:45247800-45251400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:45248000-45248400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr12:45248000-45249000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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