Variant report

Variant	rs10191989
Chromosome Location	chr2:50268711-50268712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10192012	0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap]
rs1035342	0.83[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs10495995	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12713084	0.87[ASN][1000 genomes]
rs12987268	0.86[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13013447	0.83[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1819972	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895130	0.84[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1895131	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2351152	0.85[ASW][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2351153	0.94[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4971634	0.83[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4971635	0.87[ASN][1000 genomes]
rs4971636	0.83[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4971639	0.91[ASN][1000 genomes]
rs4971640	0.94[CEU][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6545145	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs6712970	0.85[ASW][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6736816	0.92[ASW][hapmap];0.89[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6754803	0.88[ASN][1000 genomes]
rs7601845	0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs768249	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs768250	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs9309173	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1011144	chr2:50231111-50270096	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1004550	chr2:50250335-50274067	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv581838	chr2:50250758-50274774	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10191989	RHOQ	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50265800-50269800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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