Variant report

Variant	rs1560738
Chromosome Location	chr4:124791509-124791510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11724293	0.80[ASN][1000 genomes]
rs11731103	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11736884	0.80[ASN][1000 genomes]
rs13434683	0.82[ASN][1000 genomes]
rs13435426	0.82[ASN][1000 genomes]
rs1368506	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1433222	0.81[ASN][1000 genomes]
rs1433223	0.82[ASN][1000 genomes]
rs28374358	0.82[ASN][1000 genomes]
rs28438519	0.82[ASN][1000 genomes]
rs58194546	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58833496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68018489	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9991120	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv432623	chr4:124780908-124851395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124778600-124791600	Weak transcription	Psoas Muscle	Psoas
2	chr4:124778600-124792400	Weak transcription	Right Atrium	heart
3	chr4:124778600-124797600	Weak transcription	Ovary	ovary
4	chr4:124780000-124792600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:124789200-124793200	Enhancers	HepG2	liver
6	chr4:124789600-124791600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:124789800-124793000	Enhancers	Fetal Muscle Leg	muscle
8	chr4:124790200-124791800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:124790400-124791600	Enhancers	Colon Smooth Muscle	Colon
10	chr4:124790400-124791600	Enhancers	Fetal Lung	lung
11	chr4:124790400-124792000	Enhancers	Fetal Kidney	kidney
12	chr4:124790600-124792000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:124790800-124791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:124790800-124791600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:124790800-124791800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:124790800-124793600	Enhancers	HSMMtube	muscle
17	chr4:124791000-124791600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:124791000-124791600	Enhancers	Placenta	Placenta
19	chr4:124791000-124791600	Enhancers	HSMM	muscle
20	chr4:124791000-124791800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:124791000-124791800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:124791000-124791800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr4:124791000-124791800	Enhancers	Stomach Smooth Muscle	stomach
24	chr4:124791000-124793800	Enhancers	Fetal Heart	heart
25	chr4:124791200-124791600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr4:124791200-124793200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:124791200-124797400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:124791400-124791600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:124791400-124791600	Enhancers	Right Ventricle	heart
30	chr4:124791400-124791800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:124791400-124792000	Enhancers	Fetal Muscle Trunk	muscle
32	chr4:124791400-124792000	Enhancers	Left Ventricle	heart
33	chr4:124791400-124792800	Enhancers	Spleen	Spleen
34	chr4:124791400-124797400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:124791400-124797800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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