Variant report

Variant	rs16943938
Chromosome Location	chr18:25245149-25245150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16943947	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080945	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73944998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv833604	chr18:25226727-25417423	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv962948	chr18:25241568-25248773	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25237400-25245400	Weak transcription	HSMM	muscle
2	chr18:25237800-25245400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr18:25240200-25249200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:25240600-25246600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr18:25243000-25246400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:25243200-25245400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr18:25243200-25245600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:25243400-25245200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:25243400-25245400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:25243400-25245400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:25243400-25245400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:25243400-25245400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:25243400-25246600	Weak transcription	Liver	Liver
14	chr18:25243600-25245400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:25245000-25246400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:25245000-25246600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:25245000-25246800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr18:25245000-25246800	Enhancers	HSMMtube	muscle
19	chr18:25245000-25248800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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