Variant report

Variant	rs73928384
Chromosome Location	chr2:49230790-49230791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59917762	1.00[AMR][1000 genomes]
rs59931901	1.00[AMR][1000 genomes]
rs60376465	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72875918	1.00[AMR][1000 genomes]
rs72875974	1.00[AMR][1000 genomes]
rs72875976	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv874007	chr2:49102526-49321164	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv834003	chr2:49131673-49312273	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	esv2751895	chr2:49178349-49271417	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581791	chr2:49230413-49296396	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
9	nsv874010	chr2:49230413-49393382	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49227600-49232000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:49229000-49231400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:49229600-49231400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:49229600-49231400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:49229600-49232400	Enhancers	GM12878-XiMat	blood
6	chr2:49229800-49231000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:49229800-49232000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:49230000-49231000	Weak transcription	HSMMtube	muscle
9	chr2:49230000-49231400	Enhancers	Primary B cells from cord blood	blood
10	chr2:49230200-49232400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:49230400-49230800	Enhancers	Ovary	ovary
12	chr2:49230400-49231200	Enhancers	Adipose Nuclei	Adipose
13	chr2:49230600-49231200	Enhancers	Brain Cingulate Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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