Variant report

Variant	rs72923748
Chromosome Location	chr2:79007004-79007005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11676099	0.93[ASN][1000 genomes]
rs11886800	0.95[ASN][1000 genomes]
rs11902387	0.93[ASN][1000 genomes]
rs12622478	0.97[ASN][1000 genomes]
rs17015607	0.88[ASN][1000 genomes]
rs17015611	0.88[ASN][1000 genomes]
rs57712713	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58039460	0.86[ASN][1000 genomes]
rs6720391	0.90[ASN][1000 genomes]
rs6723382	0.86[ASN][1000 genomes]
rs6737473	0.86[ASN][1000 genomes]
rs6739558	0.95[ASN][1000 genomes]
rs6746125	1.00[ASN][1000 genomes]
rs6748640	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6751026	0.94[EUR][1000 genomes]
rs6751040	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72923747	1.00[ASN][1000 genomes]
rs72923749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73943257	0.93[ASN][1000 genomes]
rs73943260	0.97[ASN][1000 genomes]
rs73945086	0.87[ASN][1000 genomes]
rs7579066	0.86[ASN][1000 genomes]
rs7605836	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014232	chr2:78413760-79034119	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535788	chr2:78413760-79034119	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916498	chr2:78429997-79340383	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3584761	chr2:78545020-79430628	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv998961	chr2:78574081-79150087	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv428052	chr2:78615333-79075603	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv874370	chr2:78668935-79013457	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2755345	chr2:78857845-79045945	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv874373	chr2:78914837-79010908	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv3369805	chr2:79005494-79007342	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:79006800-79007200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:79006800-79007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr2:79006800-79007800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:79006800-79008000	Active TSS	Adipose Nuclei	Adipose
5	chr2:79006800-79008200	Active TSS	Colon Smooth Muscle	Colon
6	chr2:79006800-79008200	Flanking Active TSS	Fetal Muscle Leg	muscle
7	chr2:79006800-79008200	Active TSS	Rectal Smooth Muscle	rectum
8	chr2:79006800-79008400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr2:79006800-79008400	Active TSS	Stomach Smooth Muscle	stomach
10	chr2:79006800-79008800	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr2:79007000-79007400	Enhancers	Gastric	stomach
12	chr2:79007000-79007600	Active TSS	Brain Hippocampus Middle	brain
13	chr2:79007000-79007600	Flanking Active TSS	Fetal Stomach	stomach
14	chr2:79007000-79007800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:79007000-79008000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:79007000-79008000	Active TSS	Aorta	Aorta
17	chr2:79007000-79008000	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:79007000-79008400	Enhancers	Fetal Heart	heart

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