Variant report

Variant	rs1605295
Chromosome Location	chr12:45257335-45257336
allele	G/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:42)

rs_ID	r²[population]
rs10506260	0.85[EUR][1000 genomes]
rs11609078	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11609889	0.85[EUR][1000 genomes]
rs11612170	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11612586	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11613494	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11614600	0.82[EUR][1000 genomes]
rs11615455	0.81[EUR][1000 genomes]
rs12810186	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12811419	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12811488	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12813393	0.93[EUR][1000 genomes]
rs12816104	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12816234	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12816596	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12818196	0.85[EUR][1000 genomes]
rs12822209	0.81[EUR][1000 genomes]
rs12829582	0.81[EUR][1000 genomes]
rs12830481	0.85[EUR][1000 genomes]
rs12831193	0.85[EUR][1000 genomes]
rs17095316	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17598279	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28696281	0.83[EUR][1000 genomes]
rs34073769	0.85[EUR][1000 genomes]
rs34089464	0.85[EUR][1000 genomes]
rs34568257	0.81[EUR][1000 genomes]
rs34608296	0.85[EUR][1000 genomes]
rs34685472	0.85[EUR][1000 genomes]
rs35018588	0.85[EUR][1000 genomes]
rs35256979	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35374916	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35514455	0.85[EUR][1000 genomes]
rs35555451	0.85[EUR][1000 genomes]
rs35781370	0.85[EUR][1000 genomes]
rs35799097	0.81[EUR][1000 genomes]
rs35939831	0.85[EUR][1000 genomes]
rs71459269	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71459270	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71459276	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs71459279	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71459290	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71459292	0.85[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45248600-45259600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:45253600-45258200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:45254600-45258200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:45255800-45257400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:45256000-45257800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:45256000-45258800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:45256600-45259800	Weak transcription	Fetal Brain Female	brain
8	chr12:45256800-45257400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr12:45257000-45257400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:45257000-45257400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr12:45257000-45257600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:45257000-45266800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:45257200-45258600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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