Variant report

Variant	rs72957473
Chromosome Location	chr11:86369871-86369872
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86368500..86371397-chr11:86375081..86378008,3	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10501626	0.89[ASN][1000 genomes]
rs10792871	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12573953	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12574672	0.85[EUR][1000 genomes]
rs12575285	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12575580	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17211458	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17211563	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17211584	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17818784	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17818845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819523	0.89[ASN][1000 genomes]
rs17819683	0.89[ASN][1000 genomes]
rs1945142	0.89[ASN][1000 genomes]
rs2226566	0.89[ASN][1000 genomes]
rs471780	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs539214	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56095595	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56140354	0.89[ASN][1000 genomes]
rs56935647	0.87[ASN][1000 genomes]
rs581796	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60229086	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60379752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs623785	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659301	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66878934	0.96[EUR][1000 genomes]
rs66909667	0.89[ASN][1000 genomes]
rs67112634	0.89[ASN][1000 genomes]
rs67655324	0.96[EUR][1000 genomes]
rs686768	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs687138	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72955481	0.84[ASN][1000 genomes]
rs72957414	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957420	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72957439	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72957441	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72957457	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72957470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957476	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959410	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72959413	0.92[ASN][1000 genomes]
rs72959421	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959427	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72959431	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72961766	0.96[EUR][1000 genomes]
rs7480835	0.89[ASN][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv555704	chr11:86344677-86386784	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86344000-86373800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:86355600-86370400	Weak transcription	Psoas Muscle	Psoas
3	chr11:86362000-86378000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:86363000-86373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:86366200-86380000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:86366600-86379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:86367600-86370400	Weak transcription	NHLF	lung
8	chr11:86369200-86370400	Enhancers	Ovary	ovary
9	chr11:86369200-86371400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:86369400-86375600	Weak transcription	Aorta	Aorta
11	chr11:86369600-86370000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
12	chr11:86369600-86370000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:86369600-86370200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:86369600-86370400	Enhancers	Fetal Brain Female	brain
15	chr11:86369600-86371400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:86369600-86371400	Enhancers	Right Ventricle	heart
17	chr11:86369600-86371400	Enhancers	HSMM	muscle
18	chr11:86369600-86371600	Enhancers	Fetal Heart	heart
19	chr11:86369600-86371800	Enhancers	HSMMtube	muscle
20	chr11:86369600-86372200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:86369600-86372600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:86369600-86372800	Enhancers	Left Ventricle	heart
23	chr11:86369800-86370400	Weak transcription	Fetal Brain Male	brain
24	chr11:86369800-86370600	Weak transcription	Right Atrium	heart
25	chr11:86369800-86370600	Enhancers	Stomach Smooth Muscle	stomach
26	chr11:86369800-86373800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:86369800-86379600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:86369800-86379600	Weak transcription	Lung	lung
29	chr11:86369800-86379800	Weak transcription	Brain Anterior Caudate	brain
30	chr11:86369800-86381200	Weak transcription	Pancreas	Pancrea
31	chr11:86369800-86382000	Weak transcription	Fetal Muscle Leg	muscle

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