Variant report

Variant	rs2945660
Chromosome Location	chr18:14961870-14961871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11665121	0.83[AMR][1000 genomes]
rs16956954	0.84[AMR][1000 genomes]
rs2005092	0.83[AMR][1000 genomes]
rs2460072	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2460077	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487170	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28548720	0.80[AMR][1000 genomes]
rs28562095	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2860496	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2872415	0.84[AMR][1000 genomes]
rs28835715	0.86[EUR][1000 genomes]
rs3813066	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4890720	0.80[AMR][1000 genomes]
rs56039970	0.91[EUR][1000 genomes]
rs56233211	0.84[AMR][1000 genomes]
rs56380668	0.84[AMR][1000 genomes]
rs62087312	0.84[AMR][1000 genomes]
rs62087314	0.83[AMR][1000 genomes]
rs62087315	0.82[AMR][1000 genomes]
rs699307	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786019	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs786020	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs786023	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs786024	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786047	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8098277	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs8099426	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9954543	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9955079	0.80[EUR][1000 genomes]
rs9955645	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	esv2751771	chr18:14704694-15106727	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv909434	chr18:14841828-15149366	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv576542	chr18:14913292-14978677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv33381	chr18:14929347-15052868	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv961035	chr18:14935356-14984974	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv960221	chr18:14948300-14977956	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv576543	chr18:14949001-15178340	Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv2761993	chr18:14956916-15402408	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2945660	SPIRE1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14961600-14962400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr18:14961800-14962400	Enhancers	Osteobl	bone
3	chr18:14961800-14963000	Enhancers	HUVEC	blood vessel

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