Variant report

Variant	rs72753953
Chromosome Location	chr15:83436582-83436583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83425158..83429162-chr15:83434771..83437129,3	K562	blood:
2	chr15:83432559..83435214-chr15:83435455..83437217,3	MCF-7	breast:
3	chr15:83419437..83421687-chr15:83435711..83437467,2	K562	blood:
4	chr15:83436562..83439014-chr15:83439080..83440888,2	K562	blood:
5	chr15:83428179..83430469-chr15:83435765..83438520,3	MCF-7	breast:
6	chr15:83417706..83421597-chr15:83434237..83437935,4	MCF-7	breast:
7	chr15:83434522..83436692-chr15:83477124..83479889,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252690	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000250988	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]
rs72753954	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83422400-83436800	Strong transcription	Primary T cells from cord blood	blood
2	chr15:83425000-83447800	Weak transcription	Fetal Brain Male	brain
3	chr15:83427800-83437200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr15:83427800-83442200	Weak transcription	Brain Substantia Nigra	brain
5	chr15:83428000-83438200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr15:83428000-83440400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:83428000-83440400	Weak transcription	Esophagus	oesophagus
8	chr15:83428000-83441000	Weak transcription	K562	blood
9	chr15:83428000-83442200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:83428200-83437200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:83428200-83437600	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:83428200-83437800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:83428200-83439600	Weak transcription	HMEC	breast
14	chr15:83428200-83440200	Weak transcription	NHEK	skin
15	chr15:83428400-83437200	Weak transcription	Hela-S3	cervix
16	chr15:83428400-83440200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:83429200-83436600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:83429400-83437200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:83429600-83437600	Weak transcription	Fetal Thymus	thymus
20	chr15:83430800-83436800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:83430800-83437000	Strong transcription	Brain Germinal Matrix	brain
22	chr15:83431200-83437200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:83431200-83437200	Weak transcription	HSMMtube	muscle
24	chr15:83431200-83438800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr15:83431400-83437400	Weak transcription	NH-A	brain
26	chr15:83431400-83437600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:83431400-83437600	Weak transcription	Osteobl	bone
28	chr15:83431600-83437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:83431600-83437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:83431600-83437400	Weak transcription	HSMM	muscle
31	chr15:83432000-83436800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:83433400-83436800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:83433600-83436600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:83433600-83436800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr15:83433600-83437000	Strong transcription	Fetal Stomach	stomach
36	chr15:83433800-83437200	Strong transcription	Fetal Intestine Small	intestine
37	chr15:83434200-83438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:83434200-83438000	Weak transcription	Aorta	Aorta
39	chr15:83434200-83441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:83434400-83437400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:83434400-83437400	Weak transcription	HepG2	liver
42	chr15:83434400-83439000	Weak transcription	Liver	Liver
43	chr15:83434400-83439400	Weak transcription	Gastric	stomach
44	chr15:83434400-83441000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr15:83434400-83442000	Weak transcription	Pancreas	Pancrea
46	chr15:83434400-83443200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr15:83434600-83438000	Weak transcription	Placenta	Placenta
48	chr15:83434600-83439000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr15:83434600-83442000	Weak transcription	Brain Hippocampus Middle	brain
50	chr15:83434600-83443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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