Variant report

Variant	rs72747938
Chromosome Location	chr1:223818814-223818815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12118128	0.81[EUR][1000 genomes]
rs12130788	1.00[AFR][1000 genomes]
rs12130866	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12132879	1.00[AFR][1000 genomes]
rs12132899	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12137025	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12137149	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12141998	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1419310	0.88[EUR][1000 genomes]
rs17483760	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28370004	1.00[AFR][1000 genomes]
rs28370163	1.00[AFR][1000 genomes]
rs55854109	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56017959	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56023421	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72747945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72747950	0.81[EUR][1000 genomes]
rs72747968	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72747974	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72747975	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72749511	1.00[AFR][1000 genomes]
rs72749512	1.00[AFR][1000 genomes]
rs72749513	1.00[AFR][1000 genomes]
rs72749554	1.00[AFR][1000 genomes]
rs7522432	0.86[EUR][1000 genomes]
rs7552613	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873209	chr1:223707647-223846564	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1000199	chr1:223803545-223854859	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873212	chr1:223807262-223853792	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:223802800-223821000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:223808600-223825000	Weak transcription	Gastric	stomach
3	chr1:223809600-223827600	Weak transcription	Colonic Mucosa	Colon
4	chr1:223812200-223819400	Weak transcription	Stomach Mucosa	stomach
5	chr1:223815800-223820400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:223816200-223820600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:223817400-223819000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:223818800-223819800	Enhancers	A549	lung
9	chr1:223818800-223820000	Enhancers	Pancreatic Islets	Pancreatic Islet

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