Variant report

Variant	rs547591
Chromosome Location	chr11:86384737-86384738
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:86384386-86384864	MCF-7	breast:	n/a	chr11:86384612-86384623
2	CEBPB	chr11:86384447-86384787	A549	lung:	n/a	chr11:86384612-86384623
3	CEBPB	chr11:86384446-86384770	IMR90	lung:	n/a	chr11:86384612-86384623
4	CEBPB	chr11:86384482-86384768	Hela-S3	cervix:	n/a	chr11:86384612-86384623
5	CEBPB	chr11:86384465-86384778	HepG2	liver:	n/a	chr11:86384612-86384623

No.	Distal block	Cell Line	Cell type
1	chr11:86378621..86386201-chr11:86413884..86420246,14	MCF-7	breast:
2	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
3	chr11:86210913..86213504-chr11:86383764..86386048,2	MCF-7	breast:
4	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
5	chr11:86384691..86386910-chr11:86486642..86488921,2	MCF-7	breast:

Variant related genes	Relation type
ME3	TF binding region
ENSG00000150687	Chromatin interaction
ENSG00000254731	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs507123	0.95[ASN][1000 genomes]
rs507211	0.95[ASN][1000 genomes]
rs594361	0.98[ASN][1000 genomes]
rs601988	0.95[ASN][1000 genomes]
rs603241	0.95[ASN][1000 genomes]
rs622933	0.96[ASN][1000 genomes]
rs626049	0.95[ASN][1000 genomes]
rs627684	0.95[ASN][1000 genomes]
rs682915	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684365	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86382600-86384800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:86383600-86385400	Enhancers	Hela-S3	cervix
3	chr11:86383800-86384800	Enhancers	Fetal Heart	heart
4	chr11:86383800-86384800	Enhancers	Left Ventricle	heart
5	chr11:86383800-86384800	Enhancers	Pancreas	Pancrea
6	chr11:86383800-86385400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:86383800-86385600	Enhancers	Liver	Liver
8	chr11:86383800-86385800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:86383800-86386400	Enhancers	Stomach Mucosa	stomach
10	chr11:86383800-86387000	Weak transcription	Psoas Muscle	Psoas
11	chr11:86383800-86387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:86383800-86387600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:86383800-86387800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:86383800-86387800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:86383800-86388600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:86383800-86389200	Weak transcription	Right Atrium	heart
17	chr11:86383800-86389200	Weak transcription	HSMM	muscle
18	chr11:86383800-86391600	Weak transcription	Right Ventricle	heart
19	chr11:86383800-86393000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:86383800-86393200	Weak transcription	Aorta	Aorta
21	chr11:86384000-86384800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:86384000-86384800	Enhancers	Colonic Mucosa	Colon
23	chr11:86384000-86384800	Enhancers	Fetal Brain Male	brain
24	chr11:86384000-86384800	Enhancers	Gastric	stomach
25	chr11:86384000-86384800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:86384000-86384800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:86384000-86385800	Enhancers	Adipose Nuclei	Adipose
28	chr11:86384000-86386400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:86384000-86386400	Enhancers	A549	lung
30	chr11:86384000-86387200	Weak transcription	Fetal Intestine Small	intestine
31	chr11:86384000-86388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:86384000-86388400	Weak transcription	Brain Germinal Matrix	brain
33	chr11:86384000-86389400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:86384000-86389400	Weak transcription	Osteobl	bone
35	chr11:86384000-86392000	Weak transcription	Fetal Lung	lung
36	chr11:86384200-86385000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:86384200-86385600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:86384200-86387200	Weak transcription	Fetal Intestine Large	intestine
39	chr11:86384200-86389200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:86384200-86389400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:86384200-86389600	Weak transcription	NHLF	lung
42	chr11:86384400-86385200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr11:86384400-86385200	Weak transcription	Fetal Stomach	stomach
44	chr11:86384400-86385400	Weak transcription	HUVEC	blood vessel
45	chr11:86384400-86386200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:86384400-86387400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:86384400-86388000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:86384400-86389200	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:86384400-86389400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:86384400-86389400	Weak transcription	Brain Angular Gyrus	brain

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