Variant report

Variant	rs12279778
Chromosome Location	chr11:62262345-62262346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62262183..62263826-chr11:62266495..62268573,2	MCF-7	breast:
2	chr11:62261921..62263896-chr11:62265298..62268130,3	K562	blood:
3	chr11:62261921..62263712-chr11:62265298..62267732,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11231105	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280776	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283164	1.00[AMR][1000 genomes]
rs12287248	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157361	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55774907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57293370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57575327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479396	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60928821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524789	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118805	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126915	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498073	1.00[AMR][1000 genomes]
rs73502133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	nsv345	chr11:62225251-62270254	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62231200-62264600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:62247800-62264600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:62247800-62266600	Weak transcription	Esophagus	oesophagus
4	chr11:62247800-62272600	Weak transcription	Aorta	Aorta
5	chr11:62248600-62264600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:62249000-62264600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:62256400-62264600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:62257400-62267000	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:62257400-62267000	Weak transcription	Fetal Stomach	stomach
10	chr11:62257600-62264200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:62257600-62264400	Weak transcription	Adipose Nuclei	Adipose
12	chr11:62257600-62264600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:62257600-62264600	Weak transcription	Left Ventricle	heart
14	chr11:62257600-62264600	Weak transcription	NH-A	brain
15	chr11:62257600-62267000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:62258200-62266800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:62258400-62267000	Weak transcription	Right Atrium	heart
18	chr11:62259000-62264600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:62259200-62267000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:62259600-62264600	Weak transcription	Placenta	Placenta
21	chr11:62260000-62264600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:62260000-62264800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:62260200-62264400	Weak transcription	K562	blood
24	chr11:62260400-62263600	Weak transcription	HepG2	liver
25	chr11:62262200-62264400	Weak transcription	NHDF-Ad	bronchial

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