Variant report

Variant	rs12288793
Chromosome Location	chr11:34498689-34498690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11032656	0.92[EUR][1000 genomes]
rs11032672	0.94[EUR][1000 genomes]
rs11032702	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107573	0.97[EUR][1000 genomes]
rs12269988	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272630	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273124	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285026	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285064	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293745	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295136	0.97[EUR][1000 genomes]
rs16925514	0.97[EUR][1000 genomes]
rs17883208	0.89[EUR][1000 genomes]
rs17884086	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057513	0.95[AFR][1000 genomes]
rs57360584	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58817388	0.97[EUR][1000 genomes]
rs59468184	0.97[EUR][1000 genomes]
rs7114869	0.97[EUR][1000 genomes]
rs7121907	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125892	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436768	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926613	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9282626	0.97[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	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34483400-34501600	Weak transcription	HMEC	breast
2	chr11:34491000-34501800	Weak transcription	Psoas Muscle	Psoas
3	chr11:34494000-34499400	Weak transcription	HepG2	liver
4	chr11:34494000-34501800	Weak transcription	HSMM	muscle
5	chr11:34494200-34499400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:34494400-34501400	Weak transcription	Fetal Kidney	kidney
7	chr11:34495200-34499000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:34495200-34499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:34495200-34501800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:34495600-34498800	Weak transcription	Primary B cells from cord blood	blood
11	chr11:34495600-34500400	Weak transcription	Liver	Liver
12	chr11:34496800-34498800	Weak transcription	Adipose Nuclei	Adipose
13	chr11:34496800-34501400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:34496800-34501800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:34497000-34501800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:34497200-34501800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:34498400-34499000	Enhancers	Hela-S3	cervix
18	chr11:34498600-34502200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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