Variant report

Variant	rs7107851
Chromosome Location	chr11:93757055-93757056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11020619	0.85[EUR][1000 genomes]
rs11820915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823785	0.88[EUR][1000 genomes]
rs11823836	0.91[EUR][1000 genomes]
rs11828737	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12278077	0.87[EUR][1000 genomes]
rs1518560	0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs1518565	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1518566	0.97[EUR][1000 genomes]
rs1518573	0.89[EUR][1000 genomes]
rs1568259	0.98[EUR][1000 genomes]
rs16919810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919815	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919858	0.96[EUR][1000 genomes]
rs1850656	0.85[EUR][1000 genomes]
rs1894166	0.82[EUR][1000 genomes]
rs1914723	0.98[EUR][1000 genomes]
rs1945786	0.85[EUR][1000 genomes]
rs1945787	0.85[EUR][1000 genomes]
rs2020351	0.82[EUR][1000 genomes]
rs2139089	0.85[EUR][1000 genomes]
rs2213108	0.83[EUR][1000 genomes]
rs2399749	0.98[EUR][1000 genomes]
rs2399750	0.85[EUR][1000 genomes]
rs2460049	0.85[EUR][1000 genomes]
rs2460050	0.85[EUR][1000 genomes]
rs2460052	0.81[EUR][1000 genomes]
rs2460058	0.93[EUR][1000 genomes]
rs2460064	0.83[EUR][1000 genomes]
rs2460069	0.85[EUR][1000 genomes]
rs2462743	0.89[EUR][1000 genomes]
rs2462757	0.82[EUR][1000 genomes]
rs2462759	0.85[EUR][1000 genomes]
rs2462763	0.85[EUR][1000 genomes]
rs2511380	0.85[EUR][1000 genomes]
rs2511390	0.91[EUR][1000 genomes]
rs2511403	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs4415716	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56355412	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72964611	0.81[EUR][1000 genomes]
rs72964616	0.88[EUR][1000 genomes]
rs72964618	0.86[EUR][1000 genomes]
rs72964621	0.89[EUR][1000 genomes]
rs72964623	0.89[EUR][1000 genomes]
rs72964624	0.89[EUR][1000 genomes]
rs72964625	0.91[EUR][1000 genomes]
rs72964634	0.93[EUR][1000 genomes]
rs72964664	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72964672	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72964674	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72964683	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72964690	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72964693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72966608	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72966612	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72966637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs925005	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs959342	0.85[EUR][1000 genomes]
rs959343	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7107851	GPR83	cis	cerebellum	SCAN
rs7107851	CNKSR2	trans	parietal	SCAN
rs7107851	HEPHL1	cis	Artery Tibial	GTEx
rs7107851	FAM76B	cis	cerebellum	SCAN
rs7107851	HEPHL1	cis	Artery Aorta	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93752200-93758000	Weak transcription	NH-A	brain
2	chr11:93755000-93757400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:93755600-93760600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:93755800-93761200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:93756200-93759000	Enhancers	HMEC	breast
6	chr11:93756600-93758000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:93756800-93757200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:93756800-93757600	Enhancers	Fetal Kidney	kidney
9	chr11:93756800-93758000	Enhancers	K562	blood
10	chr11:93757000-93757200	Bivalent/Poised TSS	Esophagus	oesophagus
11	chr11:93757000-93757200	Flanking Active TSS	NHEK	skin
12	chr11:93757000-93758000	Enhancers	Fetal Lung	lung

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