Variant report

Variant	rs2240589
Chromosome Location	chr15:92714879-92714880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1165	1.00[CEU][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs17696379	0.82[CHB][hapmap]
rs2270059	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270060	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777722	1.00[ASW][hapmap];0.90[GIH][hapmap];0.84[ASN][1000 genomes]
rs4777725	0.91[CEU][hapmap];0.97[EUR][1000 genomes]
rs6496900	0.84[ASN][1000 genomes]
rs7176191	0.82[CHB][hapmap]
rs748853	0.81[ASN][1000 genomes]
rs748854	0.83[ASN][1000 genomes]
rs758133	0.83[ASN][1000 genomes]
rs758135	0.84[ASN][1000 genomes]
rs8033384	0.82[CHB][hapmap]
rs886912	0.83[ASN][1000 genomes]
rs886913	1.00[ASW][hapmap];0.86[GIH][hapmap];0.81[MKK][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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	nsv1037878	chr15:92713130-92739827	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2240589	FURIN	cis	cerebellum	SCAN
rs2240589	GABARAPL3	cis	parietal	SCAN
rs2240589	SLCO3A1	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92687600-92719400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:92692800-92715200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:92708000-92718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:92708200-92719000	Weak transcription	Lung	lung
5	chr15:92708600-92716000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:92709000-92715400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:92711600-92727200	Weak transcription	Left Ventricle	heart
8	chr15:92712400-92716400	Weak transcription	Fetal Heart	heart
9	chr15:92713000-92717400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:92713400-92715200	Enhancers	Liver	Liver
11	chr15:92713400-92715400	Enhancers	HepG2	liver
12	chr15:92714000-92715400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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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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