Variant report

Variant	rs73270411
Chromosome Location	chr12:40081673-40081674
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:19)

rs_ID	r²[population]
rs4573758	1.00[AMR][1000 genomes]
rs4631951	1.00[AMR][1000 genomes]
rs57597535	1.00[AMR][1000 genomes]
rs60191587	1.00[AMR][1000 genomes]
rs61188330	1.00[AMR][1000 genomes]
rs61328583	1.00[AMR][1000 genomes]
rs61448501	1.00[AMR][1000 genomes]
rs73268364	1.00[AMR][1000 genomes]
rs73268367	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73270422	1.00[AMR][1000 genomes]
rs73270464	1.00[AMR][1000 genomes]
rs74086403	1.00[AMR][1000 genomes]
rs74086422	1.00[AMR][1000 genomes]
rs74086425	1.00[AMR][1000 genomes]
rs74090316	1.00[AMR][1000 genomes]
rs74090323	1.00[AMR][1000 genomes]
rs74090331	1.00[AMR][1000 genomes]
rs74090336	1.00[AMR][1000 genomes]
rs74090342	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv899015	chr12:39946354-40118249	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv899018	chr12:39949147-40111761	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv899022	chr12:40014427-40111761	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv899023	chr12:40046408-40111761	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
8	nsv899024	chr12:40046408-40188870	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40077600-40085000	Weak transcription	Primary T cells from cord blood	blood
2	chr12:40078800-40085200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:40080400-40085400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:40080600-40085200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:40080800-40081800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:40081000-40085400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:40081400-40082000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:40081400-40082400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:40081600-40082200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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