Variant report

Variant	rs11823255
Chromosome Location	chr11:86384546-86384547
allele	G/T
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	USF2	chr11:86384481-86384669	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:86384386-86384864	MCF-7	breast:	n/a	chr11:86384612-86384623
3	CEBPB	chr11:86384447-86384787	A549	lung:	n/a	chr11:86384612-86384623
4	CEBPB	chr11:86384446-86384770	IMR90	lung:	n/a	chr11:86384612-86384623
5	CEBPB	chr11:86384482-86384768	Hela-S3	cervix:	n/a	chr11:86384612-86384623
6	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:

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11819827	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11822971	0.83[EUR][1000 genomes]
rs11826933	0.83[EUR][1000 genomes]
rs12281596	0.89[EUR][1000 genomes]
rs56029838	0.82[EUR][1000 genomes]
rs56114029	0.80[EUR][1000 genomes]
rs56169211	0.89[EUR][1000 genomes]
rs56323342	0.82[EUR][1000 genomes]
rs7129626	0.82[EUR][1000 genomes]
rs7924649	0.88[EUR][1000 genomes]
rs7925083	0.88[EUR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86381400-86384600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr11:86382600-86384800	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr11:86383600-86384600	Enhancers	Spleen	Spleen
4	chr11:86383600-86385400	Enhancers	Hela-S3	cervix
5	chr11:86383800-86384600	Enhancers	NHDF-Ad	bronchial
6	chr11:86383800-86384800	Enhancers	Fetal Heart	heart
7	chr11:86383800-86384800	Enhancers	Left Ventricle	heart
8	chr11:86383800-86384800	Enhancers	Pancreas	Pancrea
9	chr11:86383800-86385400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:86383800-86385600	Enhancers	Liver	Liver
11	chr11:86383800-86385800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:86383800-86386400	Enhancers	Stomach Mucosa	stomach
13	chr11:86383800-86387000	Weak transcription	Psoas Muscle	Psoas
14	chr11:86383800-86387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:86383800-86387600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:86383800-86387800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:86383800-86387800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:86383800-86388600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:86383800-86389200	Weak transcription	Right Atrium	heart
20	chr11:86383800-86389200	Weak transcription	HSMM	muscle
21	chr11:86383800-86391600	Weak transcription	Right Ventricle	heart
22	chr11:86383800-86393000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:86383800-86393200	Weak transcription	Aorta	Aorta
24	chr11:86384000-86384600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:86384000-86384800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:86384000-86384800	Enhancers	Colonic Mucosa	Colon
27	chr11:86384000-86384800	Enhancers	Fetal Brain Male	brain
28	chr11:86384000-86384800	Enhancers	Gastric	stomach
29	chr11:86384000-86384800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr11:86384000-86384800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr11:86384000-86385800	Enhancers	Adipose Nuclei	Adipose
32	chr11:86384000-86386400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:86384000-86386400	Enhancers	A549	lung
34	chr11:86384000-86387200	Weak transcription	Fetal Intestine Small	intestine
35	chr11:86384000-86388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:86384000-86388400	Weak transcription	Brain Germinal Matrix	brain
37	chr11:86384000-86389400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:86384000-86389400	Weak transcription	Osteobl	bone
39	chr11:86384000-86392000	Weak transcription	Fetal Lung	lung
40	chr11:86384200-86385000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr11:86384200-86385600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:86384200-86387200	Weak transcription	Fetal Intestine Large	intestine
43	chr11:86384200-86389200	Weak transcription	Brain Anterior Caudate	brain
44	chr11:86384200-86389400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:86384200-86389600	Weak transcription	NHLF	lung
46	chr11:86384400-86384600	Active TSS	Rectal Smooth Muscle	rectum
47	chr11:86384400-86385200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr11:86384400-86385200	Weak transcription	Fetal Stomach	stomach
49	chr11:86384400-86385400	Weak transcription	HUVEC	blood vessel
50	chr11:86384400-86386200	Enhancers	Skeletal Muscle Male	skeletal muscle

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