Variant report

Variant	rs73587074
Chromosome Location	chr14:20915172-20915173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr14:20915079-20915415	K562	blood:	n/a	chr14:20915239-20915257
2	BACH1	chr14:20915077-20915408	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr14:20915064-20915418	HepG2	liver:	n/a	chr14:20915241-20915256
4	MAFK	chr14:20915084-20915413	HepG2	liver:	n/a	chr14:20915241-20915256
5	MAFK	chr14:20915125-20915355	H1-hESC	embryonic stem cell:	n/a	chr14:20915241-20915256
6	MAFK	chr14:20915075-20915401	K562	blood:	n/a	chr14:20915241-20915256
7	MAFK	chr14:20915100-20915423	IMR90	lung:	n/a	chr14:20915241-20915256
8	BACH1	chr14:20915106-20915409	K562	blood:	n/a	n/a
9	MAFF	chr14:20915106-20915408	HepG2	liver:	n/a	chr14:20915239-20915257

Variant related genes	Relation type
ENSG00000258515	TF binding region

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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61455440	1.00[AMR][1000 genomes]
rs7160712	1.00[AMR][1000 genomes]
rs73587064	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73587075	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	chr14:20909400-20915600	Weak transcription	Stomach Mucosa	stomach
3	chr14:20910600-20921400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:20910800-20920800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr14:20911000-20922200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:20911600-20922200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:20911800-20917200	Weak transcription	Fetal Brain Male	brain
8	chr14:20912000-20915200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:20912000-20921200	Strong transcription	Primary B cells from cord blood	blood
10	chr14:20912000-20921400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:20912200-20921200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:20912400-20915400	Weak transcription	Fetal Kidney	kidney
13	chr14:20912400-20920800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:20912400-20921000	Strong transcription	Primary T cells from cord blood	blood
15	chr14:20912400-20921400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:20912600-20920800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:20912600-20920800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:20912600-20920800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:20912600-20920800	Strong transcription	Brain Anterior Caudate	brain
20	chr14:20912800-20918800	Strong transcription	Colonic Mucosa	Colon
21	chr14:20912800-20920800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:20913000-20920800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:20913000-20921000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:20913000-20921000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:20913000-20921000	Strong transcription	Fetal Intestine Large	intestine
26	chr14:20913000-20921200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:20913000-20921600	Strong transcription	Fetal Stomach	stomach
28	chr14:20913200-20919200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr14:20913200-20919200	Strong transcription	Brain Angular Gyrus	brain
30	chr14:20913200-20920600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:20913200-20920600	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr14:20913200-20920800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:20913200-20920800	Strong transcription	Liver	Liver
34	chr14:20913200-20920800	Strong transcription	Brain Substantia Nigra	brain
35	chr14:20913200-20920800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr14:20913200-20921000	Strong transcription	Brain Hippocampus Middle	brain
37	chr14:20913200-20921000	Strong transcription	Osteobl	bone
38	chr14:20913200-20921200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:20913400-20919000	Strong transcription	Fetal Brain Female	brain
40	chr14:20913400-20919000	Strong transcription	Small Intestine	intestine
41	chr14:20913400-20919200	Strong transcription	HSMM	muscle
42	chr14:20913400-20920600	Strong transcription	NHDF-Ad	bronchial
43	chr14:20913400-20920800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr14:20913400-20920800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:20913400-20920800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:20913400-20920800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:20913400-20921000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:20913400-20921000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr14:20913400-20921000	Strong transcription	Placenta	Placenta
50	chr14:20913400-20921000	Strong transcription	Rectal Mucosa Donor 29	rectum

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