Variant report

Variant	rs72753954
Chromosome Location	chr15:83439077-83439078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83315474..83318164-chr15:83437876..83440206,2	K562	blood:
2	chr15:83438498..83441390-chr15:83475483..83477867,2	K562	blood:
3	chr15:83434319..83435819-chr15:83438378..83440350,2	K562	blood:
4	chr15:83315100..83318096-chr15:83438505..83441476,2	K562	blood:
5	chr15:83438774..83441165-chr15:83453782..83456653,2	K562	blood:
6	chr15:83429645..83432307-chr15:83436873..83440129,3	K562	blood:

Variant related genes	Relation type
ENSG00000259462	Chromatin interaction
ENSG00000214575	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs55698109	0.91[EUR][1000 genomes]
rs55700126	0.91[EUR][1000 genomes]
rs55732481	0.91[EUR][1000 genomes]
rs55765708	0.91[EUR][1000 genomes]
rs55769553	0.91[EUR][1000 genomes]
rs55898630	0.91[EUR][1000 genomes]
rs56261932	0.91[EUR][1000 genomes]
rs56402538	0.91[EUR][1000 genomes]
rs72751640	0.91[EUR][1000 genomes]
rs72751642	0.91[EUR][1000 genomes]
rs72751644	0.91[EUR][1000 genomes]
rs72751649	0.91[EUR][1000 genomes]
rs72751653	0.91[EUR][1000 genomes]
rs72751654	0.91[EUR][1000 genomes]
rs72751658	0.91[EUR][1000 genomes]
rs72751659	0.91[EUR][1000 genomes]
rs72751663	0.91[EUR][1000 genomes]
rs72751664	0.91[EUR][1000 genomes]
rs72751669	0.91[EUR][1000 genomes]
rs72751670	0.91[EUR][1000 genomes]
rs72751671	0.91[EUR][1000 genomes]
rs72751674	0.91[EUR][1000 genomes]
rs72751678	0.91[EUR][1000 genomes]
rs72751679	0.91[EUR][1000 genomes]
rs72751681	0.91[EUR][1000 genomes]
rs72751682	0.91[EUR][1000 genomes]
rs72751683	0.91[EUR][1000 genomes]
rs72751685	0.91[EUR][1000 genomes]
rs72751688	0.91[EUR][1000 genomes]
rs72751689	0.91[EUR][1000 genomes]
rs72751692	0.91[EUR][1000 genomes]
rs72751697	0.91[EUR][1000 genomes]
rs72751698	0.91[EUR][1000 genomes]
rs72751699	0.91[EUR][1000 genomes]
rs72751701	0.91[EUR][1000 genomes]
rs72753903	0.91[EUR][1000 genomes]
rs72753904	0.91[EUR][1000 genomes]
rs72753907	0.91[EUR][1000 genomes]
rs72753912	0.91[EUR][1000 genomes]
rs72753917	0.91[EUR][1000 genomes]
rs72753920	0.91[EUR][1000 genomes]
rs72753923	0.91[EUR][1000 genomes]
rs72753927	0.91[EUR][1000 genomes]
rs72753928	0.91[EUR][1000 genomes]
rs72753929	0.91[EUR][1000 genomes]
rs72753933	0.91[EUR][1000 genomes]
rs72753936	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753937	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753941	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72753942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443047	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	esv3346074	chr15:83422947-83456222	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83425000-83447800	Weak transcription	Fetal Brain Male	brain
2	chr15:83427800-83442200	Weak transcription	Brain Substantia Nigra	brain
3	chr15:83428000-83440400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:83428000-83440400	Weak transcription	Esophagus	oesophagus
5	chr15:83428000-83441000	Weak transcription	K562	blood
6	chr15:83428000-83442200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:83428200-83439600	Weak transcription	HMEC	breast
8	chr15:83428200-83440200	Weak transcription	NHEK	skin
9	chr15:83428400-83440200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:83434200-83441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:83434400-83439400	Weak transcription	Gastric	stomach
12	chr15:83434400-83441000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
13	chr15:83434400-83442000	Weak transcription	Pancreas	Pancrea
14	chr15:83434400-83443200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr15:83434600-83442000	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:83434600-83443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:83434600-83446600	Weak transcription	Fetal Heart	heart
18	chr15:83434800-83443200	Weak transcription	Brain Angular Gyrus	brain
19	chr15:83434800-83443400	Weak transcription	Lung	lung
20	chr15:83434800-83462200	Weak transcription	Ovary	ovary
21	chr15:83435000-83442000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:83435000-83442200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:83435200-83439600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:83435200-83440600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:83435200-83442200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:83435200-83452600	Weak transcription	Fetal Brain Female	brain
27	chr15:83435200-83457000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:83435600-83443400	Strong transcription	Left Ventricle	heart
29	chr15:83436200-83440200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:83436400-83467800	Weak transcription	Psoas Muscle	Psoas
31	chr15:83436600-83445200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:83436800-83439800	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:83436800-83440200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:83436800-83440400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:83436800-83441800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr15:83437000-83448400	Weak transcription	Fetal Stomach	stomach
37	chr15:83437600-83442200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:83437800-83439600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:83437800-83440200	Weak transcription	Right Ventricle	heart
40	chr15:83437800-83453200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:83438000-83441400	Weak transcription	HSMM	muscle
42	chr15:83439000-83439800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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