Variant report

Variant	rs72716303
Chromosome Location	chr14:63983215-63983216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63983120..63985937-chr14:63989010..63990658,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1255634	0.91[AMR][1000 genomes]
rs12883677	1.00[AFR][1000 genomes]
rs17101287	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28894732	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714300	1.00[AMR][1000 genomes]
rs72716310	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72716311	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72716317	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72716321	0.83[AMR][1000 genomes]
rs72716326	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63951000-64003200	Weak transcription	Ovary	ovary
2	chr14:63960000-63983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
5	chr14:63960400-63991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:63960600-63987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:63962800-63990600	Weak transcription	Right Ventricle	heart
8	chr14:63964000-63990400	Weak transcription	Fetal Kidney	kidney
9	chr14:63967600-63986600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr14:63967600-63996400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:63969200-63984800	Weak transcription	Lung	lung
12	chr14:63969200-63991200	Weak transcription	Right Atrium	heart
13	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
14	chr14:63970800-63990600	Weak transcription	Brain Anterior Caudate	brain
15	chr14:63971200-64000800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:63972000-64000200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:63972200-64003400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:63972400-64002800	Weak transcription	HMEC	breast
19	chr14:63972600-63987000	Weak transcription	NHEK	skin
20	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
21	chr14:63974000-63987000	Weak transcription	Liver	Liver
22	chr14:63974000-63989200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:63974000-63990600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:63974800-64007800	Weak transcription	Fetal Brain Male	brain
25	chr14:63975000-63990600	Weak transcription	Brain Angular Gyrus	brain
26	chr14:63975000-63991200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:63975000-64008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:63975200-64000600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:63975600-64005800	Weak transcription	K562	blood
30	chr14:63977200-63984800	Weak transcription	Fetal Intestine Small	intestine
31	chr14:63977200-64002400	Weak transcription	HSMM	muscle
32	chr14:63977400-63989200	Weak transcription	Fetal Intestine Large	intestine
33	chr14:63978000-63986800	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:63978000-63991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:63978200-63986000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:63978200-63986200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:63978200-63987000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:63978200-63987000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:63978200-63987000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:63978200-63987200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:63978200-63987200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr14:63978200-63987200	Weak transcription	Dnd41	blood
43	chr14:63978200-63990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:63978200-63990600	Weak transcription	HepG2	liver
45	chr14:63978200-63991200	Weak transcription	Pancreas	Pancrea
46	chr14:63978200-63993200	Weak transcription	Thymus	Thymus
47	chr14:63978400-63984800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:63978400-63984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:63978400-63990600	Weak transcription	Primary B cells from cord blood	blood
50	chr14:63978400-63991000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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