Variant report

Variant	rs11604452
Chromosome Location	chr11:59221005-59221006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1026320	0.84[EUR][1000 genomes]
rs10736699	0.88[EUR][1000 genomes]
rs10750922	0.84[EUR][1000 genomes]
rs10896974	0.88[EUR][1000 genomes]
rs11229957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602856	0.85[EUR][1000 genomes]
rs11604216	0.86[EUR][1000 genomes]
rs11605288	0.85[EUR][1000 genomes]
rs11605552	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11606927	0.85[EUR][1000 genomes]
rs11606980	0.84[EUR][1000 genomes]
rs12420159	0.85[EUR][1000 genomes]
rs12785234	0.85[EUR][1000 genomes]
rs1349777	0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1453541	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1453542	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1453544	0.82[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs1453547	0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs1453549	0.85[EUR][1000 genomes]
rs1453550	0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1453551	0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1453552	0.85[EUR][1000 genomes]
rs17500478	0.87[EUR][1000 genomes]
rs17584022	0.81[GIH][hapmap];0.85[TSI][hapmap]
rs17591107	0.82[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs1879929	0.85[EUR][1000 genomes]
rs1901855	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1901856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040326	0.88[TSI][hapmap]
rs2167923	0.82[EUR][1000 genomes]
rs2867731	0.87[EUR][1000 genomes]
rs2867748	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35630700	0.85[EUR][1000 genomes]
rs4939291	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61901576	0.85[EUR][1000 genomes]
rs61901620	0.87[EUR][1000 genomes]
rs61902559	0.86[EUR][1000 genomes]
rs6591536	0.84[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs7105556	0.88[TSI][hapmap]
rs7119928	0.87[EUR][1000 genomes]
rs7120797	0.87[EUR][1000 genomes]
rs7121582	0.91[TSI][hapmap]
rs7935959	0.85[EUR][1000 genomes]
rs7941591	0.88[EUR][1000 genomes]
rs7943953	0.88[EUR][1000 genomes]
rs7947471	0.87[EUR][1000 genomes]
rs7952071	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896877	0.87[EUR][1000 genomes]
rs896878	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs9665874	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9787928	0.85[EUR][1000 genomes]
rs9988851	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1047952	chr11:59124719-59221606	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv983153	chr11:59197223-59222105	Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv975342	chr11:59203908-59237268	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11604452	C11orf83	cis	parietal	SCAN
rs11604452	DDB1	cis	parietal	SCAN
rs11604452	OR5AR1	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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