Variant report

Variant	rs12282783
Chromosome Location	chr11:47460005-47460006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47449067..47450905-chr11:47458013..47460570,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10742805	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10742806	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769267	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11820650	0.81[ASN][1000 genomes]
rs11820680	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12419342	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17198158	0.81[ASN][1000 genomes]
rs17790804	0.83[ASN][1000 genomes]
rs2242511	0.81[ASN][1000 genomes]
rs3740684	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3740685	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3824867	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3847503	0.83[ASN][1000 genomes]
rs4237544	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4282946	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752829	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4752836	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752837	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60380053	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60882887	0.82[ASN][1000 genomes]
rs61000762	0.82[ASN][1000 genomes]
rs7101772	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7104366	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7105122	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7105907	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107853	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7108143	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111873	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117277	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119556	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7125468	0.82[ASN][1000 genomes]
rs7126210	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7130693	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753812	0.82[ASN][1000 genomes]
rs7948705	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9734013	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9919526	0.94[EUR][1000 genomes];0.98[ASN][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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47453400-47469200	Weak transcription	Psoas Muscle	Psoas
3	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
4	chr11:47456400-47460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:47456400-47460400	Weak transcription	HSMMtube	muscle
6	chr11:47456600-47463600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:47456600-47468600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:47457400-47480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:47457400-47480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:47457400-47488400	Weak transcription	Gastric	stomach
11	chr11:47457800-47469000	Weak transcription	Spleen	Spleen
12	chr11:47458800-47460200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:47458800-47460600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:47459400-47462000	Weak transcription	HSMM	muscle
15	chr11:47459800-47460600	Enhancers	Liver	Liver
16	chr11:47459800-47462200	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:47459800-47463000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:47459800-47464000	Weak transcription	Brain Anterior Caudate	brain
19	chr11:47459800-47464400	Weak transcription	Left Ventricle	heart
20	chr11:47459800-47466400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:47459800-47469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:47459800-47470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:47459800-47480600	Weak transcription	Fetal Intestine Small	intestine
24	chr11:47459800-47480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:47460000-47460600	Flanking Active TSS	HepG2	liver
26	chr11:47460000-47461600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:47460000-47462400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:47460000-47464200	Weak transcription	Adipose Nuclei	Adipose
29	chr11:47460000-47470800	Weak transcription	Lung	lung
30	chr11:47460000-47475600	Weak transcription	Stomach Smooth Muscle	stomach

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