Variant report

Variant	rs12521384
Chromosome Location	chr5:178378361-178378362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10061877	0.84[EUR][1000 genomes]
rs11739705	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11740252	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11740277	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12719860	0.85[EUR][1000 genomes]
rs2856348	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55649196	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56319808	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59955497	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62395109	0.89[EUR][1000 genomes]
rs6867221	0.85[EUR][1000 genomes]
rs6869137	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7725272	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7728828	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600489	chr5:178368096-178430375	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178369000-178378400	Weak transcription	NHDF-Ad	bronchial
2	chr5:178369000-178378800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:178369000-178380200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:178369000-178384800	ZNF genes & repeats	Fetal Stomach	stomach
5	chr5:178369400-178418200	ZNF genes & repeats	Fetal Brain Female	brain
6	chr5:178370000-178378400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:178371200-178379200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr5:178373200-178385800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:178374600-178380400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:178374800-178378600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:178374800-178380000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:178375600-178378400	Weak transcription	Brain Anterior Caudate	brain
13	chr5:178375600-178381600	Weak transcription	Right Ventricle	heart
14	chr5:178375600-178381800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:178375600-178385800	Weak transcription	Osteobl	bone
16	chr5:178375800-178379800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:178375800-178381800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:178376000-178378800	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr5:178376400-178378400	Weak transcription	Pancreas	Pancrea
20	chr5:178376800-178378400	Strong transcription	Brain Substantia Nigra	brain
21	chr5:178376800-178379000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr5:178376800-178379000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr5:178376800-178383400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr5:178376800-178383600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr5:178377000-178378400	Strong transcription	Fetal Kidney	kidney
26	chr5:178377000-178378400	ZNF genes & repeats	Ovary	ovary
27	chr5:178377000-178378600	ZNF genes & repeats	Lung	lung
28	chr5:178377000-178378600	ZNF genes & repeats	HSMMtube	muscle
29	chr5:178377000-178378800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:178377000-178379000	ZNF genes & repeats	Fetal Brain Male	brain
31	chr5:178377000-178383600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:178377200-178378400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr5:178377200-178378800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:178377200-178379000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:178377200-178379000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:178377200-178379000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:178377200-178379000	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr5:178377400-178378600	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr5:178377400-178378600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr5:178377600-178378400	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:178377600-178378400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:178377600-178378400	Weak transcription	Fetal Heart	heart
43	chr5:178377600-178378600	Strong transcription	Left Ventricle	heart
44	chr5:178377800-178378600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:178378000-178378400	Strong transcription	Colon Smooth Muscle	Colon
46	chr5:178378000-178379000	ZNF genes & repeats	Fetal Lung	lung
47	chr5:178378000-178383400	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr5:178378200-178379200	ZNF genes & repeats	Liver	Liver
49	chr5:178378200-178380200	Weak transcription	Aorta	Aorta

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