Variant report

Variant	rs72753949
Chromosome Location	chr15:83428855-83428856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83425519..83427195-chr15:83427630..83430055,2	MCF-7	breast:
2	chr15:83425158..83429162-chr15:83434771..83437129,3	K562	blood:
3	chr15:83417439..83419471-chr15:83427262..83430015,3	MCF-7	breast:
4	chr15:83428179..83430469-chr15:83435765..83438520,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

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]
rs56144034	0.91[EUR][1000 genomes]
rs56261932	0.91[EUR][1000 genomes]
rs56402538	0.91[EUR][1000 genomes]
rs72751631	0.91[EUR][1000 genomes]
rs72751636	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]
rs72753951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753953	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:14 , 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	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
12	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
13	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
14	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83420200-83433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:83420400-83436400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:83420600-83429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:83420800-83431400	Weak transcription	Stomach Mucosa	stomach
5	chr15:83421000-83429400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:83421200-83430000	Strong transcription	Primary hematopoietic stem cells	blood
7	chr15:83421200-83431200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:83421200-83431200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:83421200-83431600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr15:83421200-83432000	Strong transcription	A549	lung
11	chr15:83421400-83431400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:83421400-83431600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:83421600-83431200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:83421600-83431600	Strong transcription	Adipose Nuclei	Adipose
15	chr15:83421600-83432800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr15:83422000-83430600	Weak transcription	Small Intestine	intestine
17	chr15:83422000-83431400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr15:83422000-83431600	Strong transcription	Liver	Liver
19	chr15:83422200-83429800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:83422200-83431200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:83422200-83431600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:83422200-83435200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:83422400-83436800	Strong transcription	Primary T cells from cord blood	blood
24	chr15:83422800-83430000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr15:83422800-83430000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr15:83422800-83430400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:83423200-83429600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:83423200-83431600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:83423600-83429600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:83424000-83432600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:83424200-83432800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:83425000-83435400	Weak transcription	Fetal Kidney	kidney
33	chr15:83425000-83447800	Weak transcription	Fetal Brain Male	brain
34	chr15:83425200-83430800	Weak transcription	Fetal Heart	heart
35	chr15:83425200-83431200	Strong transcription	GM12878-XiMat	blood
36	chr15:83425200-83436200	Weak transcription	Colonic Mucosa	Colon
37	chr15:83425600-83430400	Weak transcription	NHDF-Ad	bronchial
38	chr15:83425600-83435400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:83425600-83435400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr15:83426200-83429400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:83426200-83432600	Strong transcription	Left Ventricle	heart
42	chr15:83427000-83432000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr15:83427200-83432400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:83427200-83432600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr15:83427600-83432400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr15:83427800-83430800	Weak transcription	Osteobl	bone
47	chr15:83427800-83432200	Weak transcription	Brain Anterior Caudate	brain
48	chr15:83427800-83432600	Weak transcription	Dnd41	blood
49	chr15:83427800-83433800	Weak transcription	Pancreas	Pancrea
50	chr15:83427800-83434000	Weak transcription	Fetal Lung	lung

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