Variant report

Variant	rs4758391
Chromosome Location	chr11:6144998-6144999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1038006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769656	0.83[ASN][1000 genomes]
rs10769657	0.83[ASN][1000 genomes]
rs10769658	0.83[ASN][1000 genomes]
rs10769659	0.83[ASN][1000 genomes]
rs10769667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769668	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769669	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10839477	0.83[ASN][1000 genomes]
rs10839478	0.83[ASN][1000 genomes]
rs10839479	0.83[ASN][1000 genomes]
rs10839489	0.83[ASN][1000 genomes]
rs10839491	0.83[ASN][1000 genomes]
rs10839509	0.85[ASN][1000 genomes]
rs10839510	0.85[ASN][1000 genomes]
rs10839512	0.85[ASN][1000 genomes]
rs10839513	0.85[ASN][1000 genomes]
rs10839514	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10839515	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10839516	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11040594	0.83[ASN][1000 genomes]
rs11040648	0.83[ASN][1000 genomes]
rs11040649	0.83[ASN][1000 genomes]
rs11040650	0.83[ASN][1000 genomes]
rs11040652	0.83[ASN][1000 genomes]
rs11040653	0.83[ASN][1000 genomes]
rs11040709	0.83[ASN][1000 genomes]
rs11040713	0.83[ASN][1000 genomes]
rs11040714	0.83[ASN][1000 genomes]
rs11040715	0.83[ASN][1000 genomes]
rs11040717	0.83[ASN][1000 genomes]
rs11040718	0.83[ASN][1000 genomes]
rs11040741	0.85[ASN][1000 genomes]
rs11040750	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11040760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11040761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11040764	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11511999	0.83[ASN][1000 genomes]
rs12360715	0.85[ASN][1000 genomes]
rs12787237	0.83[ASN][1000 genomes]
rs12807547	0.85[ASN][1000 genomes]
rs1304843	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1381911	0.85[CEU][hapmap]
rs1462982	0.83[ASN][1000 genomes]
rs1462983	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1599689	0.83[ASN][1000 genomes]
rs1599690	0.83[ASN][1000 genomes]
rs1841821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100884	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2344355	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2344356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325640	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs34481020	0.84[ASN][1000 genomes]
rs34682998	0.83[ASN][1000 genomes]
rs34814525	0.84[ASN][1000 genomes]
rs35349232	0.84[ASN][1000 genomes]
rs35368155	0.83[ASN][1000 genomes]
rs35672374	0.83[ASN][1000 genomes]
rs35682479	0.84[ASN][1000 genomes]
rs4362124	0.83[ASN][1000 genomes]
rs4604856	0.83[ASN][1000 genomes]
rs4758077	0.83[ASN][1000 genomes]
rs4758079	0.83[ASN][1000 genomes]
rs4758080	0.83[ASN][1000 genomes]
rs4758090	0.91[AMR][1000 genomes]
rs4758379	0.83[ASN][1000 genomes]
rs4758384	0.83[ASN][1000 genomes]
rs4758385	0.83[ASN][1000 genomes]
rs4758386	0.83[ASN][1000 genomes]
rs5005636	0.84[ASN][1000 genomes]
rs5005637	0.84[ASN][1000 genomes]
rs5005638	0.84[ASN][1000 genomes]
rs5005639	0.85[ASN][1000 genomes]
rs5005640	0.84[ASN][1000 genomes]
rs5005643	0.85[ASN][1000 genomes]
rs5005644	0.85[ASN][1000 genomes]
rs6578736	0.83[ASN][1000 genomes]
rs6578737	0.83[ASN][1000 genomes]
rs7104448	0.83[ASN][1000 genomes]
rs7106139	0.83[ASN][1000 genomes]
rs7106179	0.83[ASN][1000 genomes]
rs7111479	0.83[ASN][1000 genomes]
rs7114613	0.83[ASN][1000 genomes]
rs7114866	0.83[ASN][1000 genomes]
rs7117092	0.83[ASN][1000 genomes]
rs7117349	0.83[ASN][1000 genomes]
rs7122336	0.83[ASN][1000 genomes]
rs7122340	0.83[ASN][1000 genomes]
rs7123409	0.83[ASN][1000 genomes]
rs7929888	0.83[ASN][1000 genomes]
rs7932413	0.83[ASN][1000 genomes]
rs7932884	0.83[ASN][1000 genomes]
rs7935717	0.81[ASN][1000 genomes]
rs7935845	0.81[ASN][1000 genomes]
rs7941058	0.83[ASN][1000 genomes]
rs7943059	0.83[ASN][1000 genomes]
rs7943285	0.83[ASN][1000 genomes]
rs7946421	0.81[ASN][1000 genomes]
rs7952121	0.83[ASN][1000 genomes]
rs7952132	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv522884	chr11:6144998-6164700	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
6	nsv467697	chr11:6144998-6164700	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
7	nsv553370	chr11:6144998-6164700	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4758391	OR52N2	cis	parietal	SCAN
rs4758391	TMEM9B	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6144400-6145000	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr11:6144400-6146400	Enhancers	Primary monocytes fromperipheralblood	blood

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