Variant report

Variant	rs12279228
Chromosome Location	chr11:26971787-26971788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10835087	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835088	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835090	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835091	0.95[ASN][1000 genomes]
rs10835092	0.86[ASN][1000 genomes]
rs11822375	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12275693	0.95[ASN][1000 genomes]
rs12280405	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12281076	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282845	0.86[ASN][1000 genomes]
rs12284935	0.86[ASN][1000 genomes]
rs12285735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286240	0.86[ASN][1000 genomes]
rs12286282	0.86[ASN][1000 genomes]
rs12293478	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12421183	0.95[ASN][1000 genomes]
rs12576182	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12577937	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12578018	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1445333	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34681631	0.95[ASN][1000 genomes]
rs36102095	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59417854	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59447780	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59654892	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7106676	0.86[ASN][1000 genomes]
rs7107282	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111860	0.95[ASN][1000 genomes]
rs7125909	0.86[ASN][1000 genomes]
rs7940518	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs959042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959044	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26964000-26975600	Enhancers	NHDF-Ad	bronchial
2	chr11:26964600-26972600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:26966200-26972600	Enhancers	NH-A	brain
4	chr11:26968600-26973200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:26969400-26973000	Weak transcription	Fetal Lung	lung
6	chr11:26969800-26973600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:26970000-26971800	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:26970000-26972600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:26970200-26973000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:26970200-26973800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:26970200-26974000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:26970400-26973000	Weak transcription	HSMMtube	muscle
13	chr11:26970400-26974400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:26971000-26971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:26971000-26974600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:26971200-26972600	Enhancers	NHLF	lung
17	chr11:26971400-26972200	Enhancers	HSMM	muscle
18	chr11:26971400-26972400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:26971400-26973200	Enhancers	Liver	Liver
20	chr11:26971600-26972000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:26971600-26972000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:26971600-26972000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:26971600-26972000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:26971600-26972000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:26971600-26972000	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:26971600-26972000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:26971600-26972000	Enhancers	HMEC	breast
28	chr11:26971600-26972000	Flanking Active TSS	Osteobl	bone
29	chr11:26971600-26973000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:26971600-26975800	Enhancers	Fetal Stomach	stomach

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