Variant report

Variant	rs4654723
Chromosome Location	chr1:228786580-228786581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000206878	TF binding region
RNA5S17	TF binding region
RNA5SP18	TF binding region
ENSG00000181218	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000212237	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10489542	0.85[CEU][hapmap]
rs12066510	0.85[CEU][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs12747999	0.91[EUR][1000 genomes]
rs12759973	0.84[EUR][1000 genomes]
rs13376515	0.94[EUR][1000 genomes]
rs1925714	0.80[MEX][hapmap]
rs2180162	0.85[CEU][hapmap]
rs34046190	0.80[EUR][1000 genomes]
rs34813976	0.83[EUR][1000 genomes]
rs35491362	0.83[EUR][1000 genomes]
rs3820265	0.85[CEU][hapmap]
rs61825702	0.81[EUR][1000 genomes]
rs6426511	0.83[EUR][1000 genomes]
rs6665140	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs6679936	0.84[EUR][1000 genomes]
rs6692721	0.88[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs7415895	0.84[MEX][hapmap]
rs7544212	0.96[EUR][1000 genomes]
rs7547333	0.83[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	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	esv1828070	chr1:228758016-228793246	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4654723	DUSP5P	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228784200-228803000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:228784800-228787600	Weak transcription	Right Atrium	heart
3	chr1:228785000-228788000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:228785400-228791200	Weak transcription	HepG2	liver
5	chr1:228785800-228787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:228785800-228787600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:228786000-228786600	Enhancers	Ovary	ovary
8	chr1:228786000-228787200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:228786200-228786600	Weak transcription	Hela-S3	cervix
10	chr1:228786200-228787000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:228786200-228787200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:228786200-228787600	Strong transcription	NHEK	skin
13	chr1:228786400-228786600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
14	chr1:228786400-228787200	Strong transcription	A549	lung

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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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