Variant report

Variant	rs12421183
Chromosome Location	chr11:27013111-27013112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10835087	0.93[ASN][1000 genomes]
rs10835088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10835090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835092	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11822375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12275693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279228	0.95[ASN][1000 genomes]
rs12280405	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281076	0.95[ASN][1000 genomes]
rs12282845	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12284935	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12285735	0.95[ASN][1000 genomes]
rs12286240	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12286282	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12293478	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12577937	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1445333	0.95[ASN][1000 genomes]
rs34681631	0.93[ASN][1000 genomes]
rs36102095	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59417854	0.95[ASN][1000 genomes]
rs59447780	0.95[ASN][1000 genomes]
rs59654892	0.95[ASN][1000 genomes]
rs7106676	0.88[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7107282	0.95[ASN][1000 genomes]
rs7111860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7125909	0.88[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7940518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs959042	0.95[ASN][1000 genomes]
rs959043	0.95[ASN][1000 genomes]
rs959044	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916187	chr11:26576875-27328603	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv897146	chr11:26913936-27019331	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv949332	chr11:26935972-27223492	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv897147	chr11:26983363-27258899	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1040964	chr11:26998213-27223388	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv540975	chr11:26998213-27223388	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv949575	chr11:27005687-27233359	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv533052	chr11:27006061-27225374	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:27006200-27014800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:27008000-27013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:27008000-27015400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:27009600-27013200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:27011400-27015200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:27012600-27014400	Enhancers	Colon Smooth Muscle	Colon
7	chr11:27012800-27013200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:27012800-27013200	Enhancers	Aorta	Aorta
9	chr11:27012800-27013400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:27012800-27013600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:27012800-27014200	Enhancers	Fetal Lung	lung
12	chr11:27012800-27015000	Enhancers	NHDF-Ad	bronchial
13	chr11:27013000-27013200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:27013000-27013200	Enhancers	Stomach Smooth Muscle	stomach
15	chr11:27013000-27013800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:27013000-27013800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:27013000-27014200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:27013000-27014200	Enhancers	Fetal Stomach	stomach
19	chr11:27013000-27014200	Enhancers	HMEC	breast
20	chr11:27013000-27014400	Enhancers	HSMMtube	muscle
21	chr11:27013000-27014400	Enhancers	NHLF	lung
22	chr11:27013000-27014600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:27013000-27014600	Enhancers	Osteobl	bone

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