Variant report

Variant	rs632893
Chromosome Location	chr12:45068673-45068674
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10748401	0.84[EUR][1000 genomes]
rs10748402	0.83[EUR][1000 genomes]
rs10785518	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785520	0.82[EUR][1000 genomes]
rs10785521	0.82[EUR][1000 genomes]
rs10785522	0.83[EUR][1000 genomes]
rs10785523	0.83[EUR][1000 genomes]
rs10785524	0.83[EUR][1000 genomes]
rs10785525	0.83[EUR][1000 genomes]
rs10785526	0.83[EUR][1000 genomes]
rs10785527	0.84[EUR][1000 genomes]
rs10880665	0.82[EUR][1000 genomes]
rs10880667	0.82[EUR][1000 genomes]
rs10880668	0.82[EUR][1000 genomes]
rs10880669	0.82[EUR][1000 genomes]
rs10880670	0.82[EUR][1000 genomes]
rs10880671	0.82[EUR][1000 genomes]
rs10880672	0.82[EUR][1000 genomes]
rs10880674	0.84[EUR][1000 genomes]
rs10880675	0.82[EUR][1000 genomes]
rs10880676	0.83[EUR][1000 genomes]
rs11182562	0.81[ASN][1000 genomes]
rs12302273	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12829763	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1450540	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1450551	0.81[EUR][1000 genomes]
rs17094882	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2218943	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2408047	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2408048	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3858729	0.82[EUR][1000 genomes]
rs4768067	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4768569	0.84[EUR][1000 genomes]
rs586188	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590905	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs617006	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs625691	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633526	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs641782	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs655191	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582514	0.83[EUR][1000 genomes]
rs6582515	0.83[EUR][1000 genomes]
rs683285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs686110	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7299592	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304431	0.85[AFR][1000 genomes]
rs838975	0.99[ASN][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45049400-45069000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45051800-45081200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45056600-45083800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:45062400-45081200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:45065000-45116000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:45066600-45069000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:45066800-45083000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:45067200-45072400	Enhancers	Fetal Brain Male	brain
9	chr12:45068000-45071400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:45068000-45071800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:45068200-45069000	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:45068600-45068800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:45068600-45069000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:45068600-45069400	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:45068600-45069800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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