Variant report

Variant	rs4572738
Chromosome Location	chr3:55824412-55824413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2315942	0.85[EUR][1000 genomes]
rs4459870	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4542991	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955882	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4955884	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4974113	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6445754	0.81[EUR][1000 genomes]
rs7615473	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9809248	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840522	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9860951	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9879933	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876814	chr3:55802749-55860526	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4572738	HESX1	cis	cerebellum	SCAN
rs4572738	TWF2	cis	parietal	SCAN
rs4572738	RRP9	cis	cerebellum	SCAN
rs4572738	CCDC66	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:55817200-55830600	Weak transcription	Pancreas	Pancrea
2	chr3:55821600-55825200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:55821800-55825000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:55823000-55826800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:55823800-55824600	Enhancers	Lung	lung
6	chr3:55823800-55825400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:55824400-55825200	Enhancers	Primary hematopoietic stem cells	blood
8	chr3:55824400-55825200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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