Variant report

Variant	rs9948793
Chromosome Location	chr18:30503335-30503336
allele	C/T
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:5)

rs_ID	r²[population]
rs28475324	1.00[AMR][1000 genomes]
rs28540251	1.00[AMR][1000 genomes]
rs9959770	1.00[AFR][1000 genomes]
rs9960492	1.00[AMR][1000 genomes]
rs9961243	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758474	chr18:30383327-30574737	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758720	chr18:30383327-30574737	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv2250	chr18:30473758-30505927	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1060448	chr18:30481131-30540347	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1056985	chr18:30486272-30540347	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1816769	chr18:30486596-30518855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv20109	chr18:30495710-30503537	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3316634	chr18:30497283-30503651	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3316636	chr18:30497305-30503632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3316635	chr18:30497312-30503592	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3316637	chr18:30497386-30503541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv528397	chr18:30498621-30556985	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30500400-30504000	Enhancers	HSMM	muscle
2	chr18:30500600-30503800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:30500800-30503400	Enhancers	Osteobl	bone
4	chr18:30500800-30503600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:30500800-30503600	Enhancers	HSMMtube	muscle
6	chr18:30501600-30503600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:30502000-30503800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:30502000-30504200	Enhancers	Primary B cells from peripheral blood	blood
9	chr18:30502400-30503800	Enhancers	Primary B cells from cord blood	blood
10	chr18:30502600-30503600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr18:30502600-30503800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:30502800-30503400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr18:30502800-30503800	Enhancers	Primary hematopoietic stem cells	blood
14	chr18:30502800-30503800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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