Variant report

Variant	rs73587082
Chromosome Location	chr14:20920077-20920078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20807684..20813516-chr14:20919958..20928823,14	K562	blood:
2	chr14:20879246..20888994-chr14:20918445..20930702,42	MCF-7	breast:
3	chr14:20916584..20919855-chr14:20919945..20922892,5	K562	blood:
4	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APEX1-1	chr14:20919744-20920077	ENSG00000258515.1

Variant related genes	Relation type
ENSG00000092094	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000254846	Chromatin interaction
ENSG00000258515	Chromatin interaction
ENSG00000129484	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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56713402	1.00[AMR][1000 genomes]
rs61455440	1.00[AMR][1000 genomes]
rs7160712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73587064	1.00[AMR][1000 genomes]
rs73587074	1.00[AMR][1000 genomes]
rs73587075	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	chr14:20912000-20921200	Strong transcription	Primary B cells from cord blood	blood
7	chr14:20912000-20921400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:20912200-20921200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:20912400-20920800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:20912400-20921000	Strong transcription	Primary T cells from cord blood	blood
11	chr14:20912400-20921400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:20912600-20920800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:20912600-20920800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:20912600-20920800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:20912600-20920800	Strong transcription	Brain Anterior Caudate	brain
16	chr14:20912800-20920800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:20913000-20920800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr14:20913000-20921000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:20913000-20921000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:20913000-20921000	Strong transcription	Fetal Intestine Large	intestine
21	chr14:20913000-20921200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:20913000-20921600	Strong transcription	Fetal Stomach	stomach
23	chr14:20913200-20920600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:20913200-20920600	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr14:20913200-20920800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:20913200-20920800	Strong transcription	Liver	Liver
27	chr14:20913200-20920800	Strong transcription	Brain Substantia Nigra	brain
28	chr14:20913200-20920800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr14:20913200-20921000	Strong transcription	Brain Hippocampus Middle	brain
30	chr14:20913200-20921000	Strong transcription	Osteobl	bone
31	chr14:20913200-20921200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:20913400-20920600	Strong transcription	NHDF-Ad	bronchial
33	chr14:20913400-20920800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr14:20913400-20920800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:20913400-20920800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:20913400-20920800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:20913400-20921000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:20913400-20921000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr14:20913400-20921000	Strong transcription	Placenta	Placenta
40	chr14:20913400-20921000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr14:20913400-20921000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:20913400-20921400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:20913600-20920600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:20913600-20920600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:20913600-20920600	Strong transcription	Lung	lung
46	chr14:20913600-20920800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:20913600-20920800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:20913600-20920800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:20913600-20920800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:20913600-20920800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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