Variant report

Variant	rs1116266
Chromosome Location	chr4:124793027-124793028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12639622	0.90[ASN][1000 genomes]
rs13101469	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13109690	0.89[ASN][1000 genomes]
rs13116100	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1347185	0.81[ASN][1000 genomes]
rs1433212	0.89[EUR][1000 genomes]
rs17492375	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2082502	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3097904	0.81[ASN][1000 genomes]
rs3097905	0.81[ASN][1000 genomes]
rs3097907	0.81[ASN][1000 genomes]
rs3097937	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097939	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34759155	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35988830	0.90[ASN][1000 genomes]
rs57389113	0.84[ASN][1000 genomes]
rs62321841	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62321845	0.84[ASN][1000 genomes]
rs6845345	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs986345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124778600-124797600	Weak transcription	Ovary	ovary
2	chr4:124789200-124793200	Enhancers	HepG2	liver
3	chr4:124790800-124793600	Enhancers	HSMMtube	muscle
4	chr4:124791000-124793800	Enhancers	Fetal Heart	heart
5	chr4:124791200-124793200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:124791200-124797400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:124791400-124797400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:124791400-124797800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:124791600-124794400	Enhancers	Psoas Muscle	Psoas
10	chr4:124791600-124795800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:124791600-124797400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:124792400-124793200	Enhancers	Fetal Kidney	kidney
13	chr4:124792400-124793200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr4:124792400-124793200	Enhancers	NHDF-Ad	bronchial
15	chr4:124792600-124793200	Enhancers	Placenta	Placenta
16	chr4:124792600-124793600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:124792800-124793200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:124793000-124793400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:124793000-124796000	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:124793000-124797600	Weak transcription	Fetal Lung	lung
21	chr4:124793000-124798000	Weak transcription	Left Ventricle	heart

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