Variant report

Variant	rs73284080
Chromosome Location	chr12:45020293-45020294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10506251	0.97[EUR][1000 genomes]
rs10506252	0.97[EUR][1000 genomes]
rs11182567	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11182568	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11182573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11182575	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11182578	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11182582	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11182593	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11612950	0.97[EUR][1000 genomes]
rs11613236	0.97[EUR][1000 genomes]
rs11615599	0.90[EUR][1000 genomes]
rs1452886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094881	1.00[EUR][1000 genomes]
rs17094886	1.00[EUR][1000 genomes]
rs17094892	1.00[EUR][1000 genomes]
rs17571971	1.00[EUR][1000 genomes]
rs17572590	1.00[EUR][1000 genomes]
rs17572765	1.00[EUR][1000 genomes]
rs17649873	0.97[EUR][1000 genomes]
rs17650849	1.00[EUR][1000 genomes]
rs4768068	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768069	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768070	1.00[EUR][1000 genomes]
rs4768561	0.92[EUR][1000 genomes]
rs4768566	1.00[EUR][1000 genomes]
rs59098139	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61671085	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582510	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582511	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582512	1.00[EUR][1000 genomes]
rs7135950	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7305652	1.00[EUR][1000 genomes]
rs73284070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081513	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081517	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74081519	0.85[AFR][1000 genomes]
rs7957292	1.00[EUR][1000 genomes]
rs7961698	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7966845	0.97[EUR][1000 genomes]
rs7967221	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974472	1.00[EUR][1000 genomes]
rs7976217	1.00[EUR][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	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	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44998200-45024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:45004800-45020800	Weak transcription	Fetal Brain Female	brain
3	chr12:45004800-45034800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:45004800-45043200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:45005000-45023200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:45005000-45031200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45005000-45044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45015000-45048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:45018200-45021800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:45019600-45024200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:45020200-45020800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:45020200-45021600	Enhancers	Fetal Brain Male	brain

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