Variant report

Variant	rs55979729
Chromosome Location	chr14:25579858-25579859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17201092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952496	1.00[ASN][1000 genomes]
rs4444253	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4617771	1.00[ASN][1000 genomes]
rs55653788	1.00[ASN][1000 genomes]
rs55787005	1.00[ASN][1000 genomes]
rs55802928	1.00[ASN][1000 genomes]
rs56079418	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978850	1.00[ASN][1000 genomes]
rs61979904	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61979905	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61979906	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682996	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768972	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3490801	chr14:25560793-25675699	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3490802	chr14:25560793-25675699	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25577600-25580000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr14:25577600-25580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:25577600-25580200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:25577600-25581200	Enhancers	Fetal Heart	heart
5	chr14:25577800-25580200	Enhancers	HSMM	muscle
6	chr14:25577800-25580400	Enhancers	HSMMtube	muscle
7	chr14:25577800-25580800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:25577800-25580800	Enhancers	Brain Hippocampus Middle	brain
9	chr14:25577800-25581200	Enhancers	NHLF	lung
10	chr14:25577800-25582600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:25578000-25580200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:25578000-25580400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:25578000-25580600	Enhancers	Osteobl	bone
14	chr14:25578000-25580800	Enhancers	Brain Substantia Nigra	brain
15	chr14:25578000-25581200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:25578200-25580600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:25578400-25580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:25578400-25580600	Weak transcription	Right Atrium	heart
19	chr14:25578400-25580800	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:25578400-25583400	Weak transcription	Psoas Muscle	Psoas
21	chr14:25578600-25580200	Weak transcription	Pancreas	Pancrea
22	chr14:25578600-25580600	Weak transcription	Left Ventricle	heart
23	chr14:25578600-25580600	Weak transcription	Right Ventricle	heart
24	chr14:25578600-25580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:25578600-25582000	Weak transcription	Stomach Mucosa	stomach
26	chr14:25578600-25583600	Weak transcription	Gastric	stomach
27	chr14:25578800-25580400	Weak transcription	Fetal Lung	lung
28	chr14:25579200-25580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:25579200-25580200	Weak transcription	Fetal Intestine Large	intestine
30	chr14:25579200-25580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:25579200-25580400	Enhancers	NH-A	brain
32	chr14:25579200-25580800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr14:25579200-25581200	Enhancers	Fetal Muscle Leg	muscle
34	chr14:25579400-25580400	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:25579400-25582600	Weak transcription	Fetal Intestine Small	intestine
36	chr14:25579600-25580000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:25579600-25580000	Weak transcription	Brain Anterior Caudate	brain
38	chr14:25579600-25580200	Enhancers	Brain Angular Gyrus	brain
39	chr14:25579600-25580400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:25579600-25580800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:25579600-25580800	Enhancers	Rectal Smooth Muscle	rectum
42	chr14:25579800-25580200	Enhancers	NHDF-Ad	bronchial
43	chr14:25579800-25580400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:25579800-25580400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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