Variant report

Variant	rs72789948
Chromosome Location	chr5:111883986-111883987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55865057	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58384317	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58544708	0.85[EUR][1000 genomes]
rs59344896	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862736	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789917	0.85[EUR][1000 genomes]
rs72789919	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72789920	0.96[ASN][1000 genomes]
rs72789933	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789946	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789950	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789952	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789958	0.84[ASN][1000 genomes]
rs7705340	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111882600-111884400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:111882800-111885600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:111883000-111884000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:111883000-111884600	Enhancers	HSMMtube	muscle
5	chr5:111883000-111884800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:111883200-111884200	Enhancers	Right Atrium	heart
7	chr5:111883400-111884400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:111883400-111885000	Enhancers	NH-A	brain
9	chr5:111883600-111884000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:111883600-111884000	Flanking Active TSS	K562	blood
11	chr5:111883600-111884400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:111883600-111884600	Enhancers	Stomach Mucosa	stomach
13	chr5:111883600-111884600	Enhancers	Osteobl	bone
14	chr5:111883600-111885000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:111883800-111884400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:111883800-111884400	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:111883800-111885000	Enhancers	NHDF-Ad	bronchial
18	chr5:111883800-111887600	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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