Variant report

Variant	rs73279183
Chromosome Location	chr12:45251056-45251057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2703059	1.00[AMR][1000 genomes]
rs61656468	1.00[AMR][1000 genomes]
rs73279147	1.00[AMR][1000 genomes]
rs984753	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	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
5	esv3505007	chr12:45249908-45251699	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv3505018	chr12:45250001-45251557	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45242800-45252200	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr12:45243800-45251600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45247400-45253600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:45247800-45251400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:45248400-45252400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:45248600-45259600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:45248800-45255800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:45249000-45252400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:45249000-45255400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:45249200-45252400	Enhancers	Primary T cells from cord blood	blood
11	chr12:45250400-45251200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:45250600-45251600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:45250600-45253800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:45250800-45255400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:45251000-45251200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:45251000-45252400	Enhancers	Fetal Brain Male	brain

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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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