Variant report

Variant	rs58194546
Chromosome Location	chr4:124779158-124779159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11724293	0.86[ASN][1000 genomes]
rs11731103	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736884	0.86[ASN][1000 genomes]
rs1368506	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560738	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58833496	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61243353	0.81[ASN][1000 genomes]
rs66822580	0.82[ASN][1000 genomes]
rs68018489	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124776400-124781400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:124776800-124779200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:124777200-124781000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:124777800-124779600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:124777800-124779600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:124778000-124779600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:124778000-124781000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:124778400-124779400	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr4:124778600-124779200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:124778600-124779400	Enhancers	Adipose Nuclei	Adipose
11	chr4:124778600-124779600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:124778600-124779600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:124778600-124779600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:124778600-124779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:124778600-124779600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:124778600-124779600	Enhancers	Fetal Intestine Small	intestine
17	chr4:124778600-124779600	Weak transcription	Fetal Kidney	kidney
18	chr4:124778600-124779600	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:124778600-124779800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:124778600-124779800	Enhancers	HUVEC	blood vessel
21	chr4:124778600-124780400	Enhancers	Fetal Heart	heart
22	chr4:124778600-124780400	Enhancers	Fetal Intestine Large	intestine
23	chr4:124778600-124780600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:124778600-124780600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr4:124778600-124781400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:124778600-124791400	Weak transcription	Left Ventricle	heart
27	chr4:124778600-124791600	Weak transcription	Psoas Muscle	Psoas
28	chr4:124778600-124792400	Weak transcription	Right Atrium	heart
29	chr4:124778600-124797600	Weak transcription	Ovary	ovary
30	chr4:124778800-124779600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:124778800-124780200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:124778800-124780400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:124778800-124780400	Enhancers	Fetal Lung	lung
34	chr4:124778800-124780800	Weak transcription	HSMM	muscle
35	chr4:124778800-124784600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:124779000-124779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:124779000-124779600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:124779000-124780200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:124779000-124780800	Enhancers	HepG2	liver

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