Variant report

Variant	rs73951547
Chromosome Location	chr18:39994330-39994331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55714507	1.00[AFR][1000 genomes]
rs56403454	0.88[AFR][1000 genomes]
rs58922807	0.88[AFR][1000 genomes]
rs73951579	0.86[AFR][1000 genomes]
rs73951589	1.00[AFR][1000 genomes]
rs8087765	0.87[AFR][1000 genomes]
rs9676086	1.00[AFR][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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv909572	chr18:39938510-40064000	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39992400-39995000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:39992400-39996000	Enhancers	NH-A	brain
3	chr18:39992600-39994400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr18:39992800-39994800	Enhancers	HSMMtube	muscle
5	chr18:39992800-39995600	Enhancers	HSMM	muscle
6	chr18:39993000-39994600	Enhancers	Adipose Nuclei	Adipose
7	chr18:39993000-39996000	Enhancers	Osteobl	bone
8	chr18:39993000-39996200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:39993200-39994600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:39993400-39995600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:39993400-39995600	Enhancers	NHDF-Ad	bronchial
12	chr18:39993800-39994600	Weak transcription	Ovary	ovary
13	chr18:39993800-39995800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:39993800-39997200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:39994000-39994600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:39994000-39997400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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