Variant report

Variant	rs932993
Chromosome Location	chr1:184283674-184283675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10797954	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911553	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911554	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911555	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576933	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11579542	0.80[EUR][1000 genomes]
rs11585071	0.88[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12127124	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1930290	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4306092	0.81[ASN][1000 genomes]
rs4428848	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4651199	0.80[ASN][1000 genomes]
rs4651200	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4993067	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6666447	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684740	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7522468	0.83[ASN][1000 genomes]
rs7530243	0.87[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7543622	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7554776	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs949784	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs963234	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9787399	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs932993	IVNS1ABP	cis	cerebellum	SCAN
rs932993	GLT25D2	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184282400-184285000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:184282800-184285600	Enhancers	NHDF-Ad	bronchial
3	chr1:184283200-184284200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:184283600-184284800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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