Variant report

Variant	rs56207939
Chromosome Location	chr5:14420150-14420151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10056415	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078445	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12332644	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903497	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59371168	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60123555	1.00[EUR][1000 genomes]
rs60534900	0.95[EUR][1000 genomes]
rs60871697	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345046	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6860137	0.92[EUR][1000 genomes]
rs6860252	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6883134	1.00[EUR][1000 genomes]
rs6887662	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6894866	0.81[AMR][1000 genomes];0.97[EUR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
2	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:14392400-14426800	Weak transcription	Psoas Muscle	Psoas
5	chr5:14404000-14420600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:14404400-14428600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:14404600-14427600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:14404800-14424000	Strong transcription	Liver	Liver
9	chr5:14405200-14423600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:14405400-14423400	Strong transcription	Placenta	Placenta
11	chr5:14406800-14421600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:14410600-14428000	Weak transcription	Fetal Heart	heart
13	chr5:14411000-14428200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:14411200-14423600	Strong transcription	Fetal Intestine Large	intestine
15	chr5:14412000-14429600	Strong transcription	Fetal Intestine Small	intestine
16	chr5:14412600-14420800	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr5:14412600-14433800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:14413600-14423600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:14413600-14430200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:14413600-14445000	Weak transcription	Small Intestine	intestine
21	chr5:14414200-14424400	Genic enhancers	Fetal Muscle Leg	muscle
22	chr5:14414800-14420200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:14414800-14421000	Genic enhancers	Fetal Stomach	stomach
24	chr5:14415000-14429000	Strong transcription	Primary B cells from cord blood	blood
25	chr5:14415200-14420400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:14415600-14423400	Strong transcription	Fetal Brain Female	brain
27	chr5:14415800-14420200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:14415800-14422400	Genic enhancers	HSMM	muscle
29	chr5:14416000-14430400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:14416600-14423400	Strong transcription	Brain Germinal Matrix	brain
31	chr5:14416600-14428400	Weak transcription	Fetal Brain Male	brain
32	chr5:14416800-14420400	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr5:14416800-14424000	Strong transcription	Lung	lung
34	chr5:14416800-14424200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:14417000-14420200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:14417000-14422400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:14417000-14423400	Strong transcription	Gastric	stomach
38	chr5:14417000-14428400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:14417200-14423800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr5:14417200-14431600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:14417400-14420400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:14417400-14420600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:14417400-14422400	Strong transcription	HepG2	liver
44	chr5:14417400-14423600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:14417400-14428000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr5:14417600-14420200	Strong transcription	Brain Anterior Caudate	brain
47	chr5:14417600-14420600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:14417800-14421200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:14417800-14423400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:14417800-14423600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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