Variant report

Variant	rs72669744
Chromosome Location	chr1:56116505-56116506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17112508	1.00[ASN][1000 genomes]
rs17112514	1.00[ASN][1000 genomes]
rs17112562	1.00[ASN][1000 genomes]
rs17112565	1.00[ASN][1000 genomes]
rs17112578	1.00[ASN][1000 genomes]
rs17112596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17112601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17112607	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4927253	0.91[AMR][1000 genomes]
rs72669746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv526148	chr1:56101597-56146450	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Lipid metabolism phenotypes	22286219	GWAS catalog

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56115400-56116600	Enhancers	Ovary	ovary
2	chr1:56115800-56116600	Enhancers	Psoas Muscle	Psoas
3	chr1:56115800-56116600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:56115800-56116600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:56115800-56117200	Enhancers	Aorta	Aorta
6	chr1:56116000-56116600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:56116000-56116600	Enhancers	Fetal Lung	lung
8	chr1:56116000-56116800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:56116200-56117800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:56116400-56120400	Weak transcription	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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