Variant report

Variant	rs73954250
Chromosome Location	chr18:44705844-44705845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs14524	1.00[AFR][1000 genomes]
rs55887101	1.00[AFR][1000 genomes]
rs56267001	0.85[AFR][1000 genomes]
rs56275159	0.85[AFR][1000 genomes]
rs56394933	0.85[AFR][1000 genomes]
rs57907962	0.85[AFR][1000 genomes]
rs58475024	1.00[AFR][1000 genomes]
rs61366727	0.85[AFR][1000 genomes]
rs61546346	0.85[AFR][1000 genomes]
rs73954224	0.85[AFR][1000 genomes]
rs73954226	0.85[AFR][1000 genomes]
rs73954227	0.85[AFR][1000 genomes]
rs73954228	0.85[AFR][1000 genomes]
rs73954235	0.85[AFR][1000 genomes]
rs73954236	0.85[AFR][1000 genomes]
rs73954240	0.85[AFR][1000 genomes]
rs73954241	0.85[AFR][1000 genomes]
rs73954242	1.00[AFR][1000 genomes]
rs73954244	1.00[AFR][1000 genomes]
rs73954245	1.00[AFR][1000 genomes]
rs73954246	0.84[AFR][1000 genomes]
rs73954257	1.00[AFR][1000 genomes]
rs73954261	1.00[AFR][1000 genomes]
rs73954289	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3412252	chr18:44684003-44711534	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3352609	chr18:44705784-44705902	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44702800-44706200	Weak transcription	Lung	lung
2	chr18:44703000-44706000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr18:44705000-44706800	Enhancers	Brain Germinal Matrix	brain
4	chr18:44705600-44706200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr18:44705600-44706200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr18:44705600-44706200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr18:44705600-44706600	Enhancers	Fetal Stomach	stomach
8	chr18:44705800-44706000	Enhancers	iPS-20b 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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