Variant report

Variant	rs73285436
Chromosome Location	chr12:45132100-45132101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1597497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1597498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55946231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56164026	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56226406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56969773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57060709	1.00[AMR][1000 genomes]
rs57096185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57254647	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57396925	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58012395	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58040814	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58963961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59102343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59275409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59613472	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60255313	0.85[AMR][1000 genomes]
rs60407775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61015267	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61094573	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61443841	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61488065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278117	0.91[AMR][1000 genomes]
rs73278118	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73278126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278127	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278131	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278140	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278144	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285405	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285417	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285426	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285428	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285429	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079176	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1049080	chr12:45097564-45195295	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	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
6	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:45123400-45142400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:45127000-45132200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:45127400-45134800	Weak transcription	Fetal Brain Female	brain
5	chr12:45127400-45136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:45128000-45133000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45129400-45132800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:45129400-45133600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45130000-45133600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:45131000-45134800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:45131600-45132400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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