Variant report

Variant	rs12816104
Chromosome Location	chr12:45234938-45234939
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10506260	0.82[EUR][1000 genomes]
rs11609078	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11609889	0.82[EUR][1000 genomes]
rs11612170	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11612586	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11613494	0.86[EUR][1000 genomes]
rs12810186	0.82[EUR][1000 genomes]
rs12811419	0.82[EUR][1000 genomes]
rs12811488	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12813393	0.96[EUR][1000 genomes]
rs12816234	0.86[EUR][1000 genomes]
rs12816596	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12818196	0.82[EUR][1000 genomes]
rs12830481	0.82[EUR][1000 genomes]
rs12831193	0.82[EUR][1000 genomes]
rs1605295	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17095316	0.82[EUR][1000 genomes]
rs17598279	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34073769	0.82[EUR][1000 genomes]
rs34089464	0.82[EUR][1000 genomes]
rs34608296	0.82[EUR][1000 genomes]
rs34685472	0.82[EUR][1000 genomes]
rs35018588	0.82[EUR][1000 genomes]
rs35256979	0.82[EUR][1000 genomes]
rs35374916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35514455	0.82[EUR][1000 genomes]
rs35555451	0.82[EUR][1000 genomes]
rs35781370	0.82[EUR][1000 genomes]
rs35939831	0.82[EUR][1000 genomes]
rs71459269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71459270	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71459276	0.91[EUR][1000 genomes]
rs71459279	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71459290	0.86[EUR][1000 genomes]
rs71459292	0.82[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:45230000-45242200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:45230400-45236600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45230800-45237400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:45231200-45237600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:45231200-45241600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:45233600-45242000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:45233800-45237200	Weak transcription	Fetal Brain Female	brain
11	chr12:45233800-45239800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:45234000-45235000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:45234000-45239800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:45234200-45235200	Weak transcription	Primary T cells from cord blood	blood
15	chr12:45234200-45235200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:45234400-45235400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:45234400-45235800	Weak transcription	Fetal Brain Male	brain
18	chr12:45234800-45236000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:45234800-45242000	Enhancers	Primary T helper cells fromperipheralblood	blood

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