Variant report

Variant	rs73587075
Chromosome Location	chr14:20916210-20916211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20915261..20917097-chr14:20944759..20946988,2	K562	blood:
2	chr14:20880224..20882416-chr14:20915298..20917910,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129566	Chromatin interaction
ENSG00000258908	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10133099	1.00[AMR][1000 genomes]
rs10142443	1.00[AMR][1000 genomes]
rs3093929	1.00[AMR][1000 genomes]
rs36219435	1.00[AMR][1000 genomes]
rs56713402	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61455440	1.00[AMR][1000 genomes]
rs7160712	1.00[AMR][1000 genomes]
rs73587064	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73587074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73587082	1.00[AMR][1000 genomes]
rs8005210	1.00[AMR][1000 genomes]
rs8016586	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20909000-20921600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:20910600-20921400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:20910800-20920800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr14:20911000-20922200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:20911600-20922200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:20911800-20917200	Weak transcription	Fetal Brain Male	brain
7	chr14:20912000-20921200	Strong transcription	Primary B cells from cord blood	blood
8	chr14:20912000-20921400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:20912200-20921200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:20912400-20920800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:20912400-20921000	Strong transcription	Primary T cells from cord blood	blood
12	chr14:20912400-20921400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:20912600-20920800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:20912600-20920800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:20912600-20920800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:20912600-20920800	Strong transcription	Brain Anterior Caudate	brain
17	chr14:20912800-20918800	Strong transcription	Colonic Mucosa	Colon
18	chr14:20912800-20920800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:20913000-20920800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr14:20913000-20921000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr14:20913000-20921000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:20913000-20921000	Strong transcription	Fetal Intestine Large	intestine
23	chr14:20913000-20921200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:20913000-20921600	Strong transcription	Fetal Stomach	stomach
25	chr14:20913200-20919200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr14:20913200-20919200	Strong transcription	Brain Angular Gyrus	brain
27	chr14:20913200-20920600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:20913200-20920600	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr14:20913200-20920800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:20913200-20920800	Strong transcription	Liver	Liver
31	chr14:20913200-20920800	Strong transcription	Brain Substantia Nigra	brain
32	chr14:20913200-20920800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr14:20913200-20921000	Strong transcription	Brain Hippocampus Middle	brain
34	chr14:20913200-20921000	Strong transcription	Osteobl	bone
35	chr14:20913200-20921200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:20913400-20919000	Strong transcription	Fetal Brain Female	brain
37	chr14:20913400-20919000	Strong transcription	Small Intestine	intestine
38	chr14:20913400-20919200	Strong transcription	HSMM	muscle
39	chr14:20913400-20920600	Strong transcription	NHDF-Ad	bronchial
40	chr14:20913400-20920800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr14:20913400-20920800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:20913400-20920800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:20913400-20920800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:20913400-20921000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:20913400-20921000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr14:20913400-20921000	Strong transcription	Placenta	Placenta
47	chr14:20913400-20921000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr14:20913400-20921000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr14:20913400-20921400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:20913600-20918800	Strong transcription	Gastric	stomach

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