Variant report

Variant	rs72756754
Chromosome Location	chr1:239711991-239711992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs67065820	1.00[EUR][1000 genomes]
rs67802170	0.91[EUR][1000 genomes]
rs67978876	0.87[EUR][1000 genomes]
rs72756749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72756751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72756760	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72756761	0.91[EUR][1000 genomes]
rs72756762	0.91[EUR][1000 genomes]
rs72756763	0.82[EUR][1000 genomes]
rs72756764	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72756767	0.87[EUR][1000 genomes]
rs72756768	0.87[EUR][1000 genomes]
rs72756769	0.87[EUR][1000 genomes]
rs72756772	0.87[EUR][1000 genomes]
rs72756773	0.87[EUR][1000 genomes]
rs72756774	0.87[EUR][1000 genomes]
rs72756786	1.00[AFR][1000 genomes]
rs72756788	1.00[AFR][1000 genomes]
rs72756796	1.00[AFR][1000 genomes]
rs72756800	1.00[AFR][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	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239710600-239712000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:239710800-239720600	Weak transcription	Stomach Mucosa	stomach
3	chr1:239711000-239712000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:239711000-239712000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr1:239711600-239712000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:239711600-239712000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr1:239711600-239712200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:239711600-239713400	Weak transcription	Right Atrium	heart
9	chr1:239711600-239718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:239711800-239712000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:239711800-239712000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:239711800-239712000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr1:239711800-239712000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr1:239711800-239712000	Enhancers	Gastric	stomach
15	chr1:239711800-239712200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:239711800-239712200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:239711800-239712200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:239711800-239712200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:239711800-239712200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:239711800-239712200	Enhancers	Pancreas	Pancrea
21	chr1:239711800-239712400	ZNF genes & repeats	Fetal Intestine Small	intestine

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