Variant report

Variant	rs72751688
Chromosome Location	chr15:83318100-83318101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:83317842-83318125	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83316185..83318129-chr15:83417608..83419750,3	K562	blood:
2	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
3	chr15:83316633..83319257-chr15:83348234..83350901,2	MCF-7	breast:
4	chr15:83317439..83319648-chr15:83417162..83421021,3	MCF-7	breast:
5	chr15:83315715..83320562-chr15:83347753..83351536,6	K562	blood:
6	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
7	chr15:83315603..83319675-chr15:83327659..83331605,4	K562	blood:

No data

Variant related genes	Relation type
CPEB1	TF binding region
ENSG00000250988	Chromatin interaction
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs55698109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55700126	1.00[EUR][1000 genomes]
rs55732481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55765708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55769553	1.00[EUR][1000 genomes]
rs55898630	1.00[EUR][1000 genomes]
rs56144034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56261932	1.00[EUR][1000 genomes]
rs56402538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751663	1.00[EUR][1000 genomes]
rs72751664	1.00[EUR][1000 genomes]
rs72751669	1.00[EUR][1000 genomes]
rs72751670	1.00[EUR][1000 genomes]
rs72751671	1.00[EUR][1000 genomes]
rs72751674	1.00[EUR][1000 genomes]
rs72751678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753936	1.00[EUR][1000 genomes]
rs72753937	1.00[EUR][1000 genomes]
rs72753940	0.91[EUR][1000 genomes]
rs72753942	0.91[EUR][1000 genomes]
rs72753946	0.91[EUR][1000 genomes]
rs72753949	0.91[EUR][1000 genomes]
rs72753951	0.91[EUR][1000 genomes]
rs72753953	0.91[EUR][1000 genomes]
rs72753954	0.91[EUR][1000 genomes]
rs72753960	0.91[EUR][1000 genomes]
rs73443047	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv3434026	chr15:83314547-83318195	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83315000-83318200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr15:83316800-83318200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:83317000-83319600	Enhancers	K562	blood
4	chr15:83317200-83318200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:83317200-83331800	Weak transcription	Gastric	stomach
6	chr15:83317200-83336200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:83317600-83318400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:83317600-83318400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:83317600-83319200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:83317600-83320800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:83317600-83322000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:83317600-83322000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:83317600-83327800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:83317800-83319200	Enhancers	Brain Angular Gyrus	brain
15	chr15:83317800-83319400	Enhancers	Brain Anterior Caudate	brain
16	chr15:83317800-83319600	Enhancers	Brain Cingulate Gyrus	brain
17	chr15:83318000-83318200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:83318000-83318400	Enhancers	GM12878-XiMat	blood
19	chr15:83318000-83318800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:83318000-83319200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr15:83318000-83319600	Enhancers	Brain Hippocampus Middle	brain
22	chr15:83318000-83320200	Enhancers	Brain Substantia Nigra	brain

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