Variant report

Variant	rs4492786
Chromosome Location	chr11:101740716-101740717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10895203	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895204	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895209	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11225004	0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11225005	0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11225011	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11225012	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11225015	0.82[ASN][1000 genomes]
rs11225018	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11225019	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11225022	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11225023	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11225033	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11225034	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11225045	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11225046	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11602758	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12363310	0.82[AMR][1000 genomes]
rs12364967	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365011	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12577363	0.85[ASN][1000 genomes]
rs1441931	0.89[ASN][1000 genomes]
rs17685643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1893921	0.83[ASN][1000 genomes]
rs1939034	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939035	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939038	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1939046	0.81[AFR][1000 genomes]
rs1939053	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1939055	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1939065	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1939067	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1939068	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1946960	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2119735	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2165588	0.89[ASN][1000 genomes]
rs2165589	0.89[ASN][1000 genomes]
rs2897863	0.89[ASN][1000 genomes]
rs2897865	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4414186	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4429028	0.81[ASN][1000 genomes]
rs4539294	0.83[ASN][1000 genomes]
rs4548585	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4575231	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4754024	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4754030	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754801	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4754803	0.82[ASN][1000 genomes]
rs4754804	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4754807	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4754808	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4754809	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4754813	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55854918	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57513630	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61915969	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61915970	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7123936	0.85[ASN][1000 genomes]
rs724569	0.89[ASN][1000 genomes]
rs7926957	0.89[ASN][1000 genomes]
rs7944493	0.89[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	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530645	chr11:101451416-101778666	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv832249	chr11:101571819-101749073	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv832250	chr11:101617934-101804020	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv430425	chr11:101626575-101741691	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101737800-101743000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:101738200-101741200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:101738200-101743200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:101738800-101740800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:101738800-101741000	Enhancers	A549	lung
6	chr11:101738800-101741200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:101739000-101740800	Weak transcription	NHLF	lung
8	chr11:101739000-101741000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:101739000-101741000	Weak transcription	HSMM	muscle
10	chr11:101739200-101741200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:101739200-101741200	Weak transcription	NH-A	brain
12	chr11:101739200-101741400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:101740200-101742000	Enhancers	NHDF-Ad	bronchial
14	chr11:101740400-101740800	Enhancers	Small Intestine	intestine
15	chr11:101740400-101742000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:101740600-101741000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:101740600-101742000	Enhancers	Osteobl	bone
18	chr11:101740600-101742200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:101740600-101742200	Enhancers	Hela-S3	cervix
20	chr11:101740600-101742200	Enhancers	HUVEC	blood vessel
21	chr11:101740600-101742400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:101740600-101742400	Enhancers	HMEC	breast

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