Variant report

Variant	rs12812329
Chromosome Location	chr12:9167788-9167789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11048494	0.98[ASN][1000 genomes]
rs11048496	0.96[ASN][1000 genomes]
rs11502446	0.96[ASN][1000 genomes]
rs12423652	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12809367	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12811795	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12816157	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12819409	0.87[AMR][1000 genomes]
rs12819575	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12822685	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12826054	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12826978	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12827501	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12828013	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17730391	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1805668	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1805670	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805671	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805672	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805673	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805674	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805675	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805676	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805716	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2159959	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2159960	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377680	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3026244	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3026251	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3026252	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34236568	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34365749	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34722215	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34920912	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35557651	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35596029	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35882740	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36061702	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3741854	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56083774	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56350793	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60267183	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61915986	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61916006	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7136774	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7302472	0.98[ASN][1000 genomes]
rs759468	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7953214	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv2754892	chr12:9136351-9179007	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv973020	chr12:9163929-9182709	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1754478	chr12:9167786-9167788	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	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	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:9142400-9168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:9159600-9168400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:9164800-9168000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:9165400-9167800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:9165600-9168000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
7	chr12:9165800-9182400	Weak transcription	Adipose Nuclei	Adipose
8	chr12:9166200-9167800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:9166200-9168200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:9166600-9168400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:9167400-9167800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:9167600-9167800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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