Variant report

Variant	rs12316277
Chromosome Location	chr12:60156114-60156115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10083171	1.00[AMR][1000 genomes]
rs11173122	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11173143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296752	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300147	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307037	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307814	1.00[AMR][1000 genomes]
rs12307854	1.00[AFR][1000 genomes]
rs12310666	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315372	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317862	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318588	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322903	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377681	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094089	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094091	0.96[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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899133	chr12:60135504-60202218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv899135	chr12:60156046-60228610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:60124000-60168800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
5	chr12:60132400-60165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:60137400-60161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:60138600-60168400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:60138800-60173200	Weak transcription	Aorta	Aorta
9	chr12:60141800-60161000	Weak transcription	Primary B cells from cord blood	blood
10	chr12:60143400-60157000	Weak transcription	Primary T cells from cord blood	blood
11	chr12:60152000-60182200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:60154800-60157600	Weak transcription	Fetal Heart	heart

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