Variant report

Variant	rs693817
Chromosome Location	chr11:86387248-86387249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:86386929-86388099	A549	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86386984..86389152-chr11:86390570..86392584,2	K562	blood:
2	chr11:86386903..86389522-chr11:86451138..86453581,3	MCF-7	breast:
3	chr11:86386748..86389830-chr11:86391852..86394746,3	MCF-7	breast:
4	chr11:86386435..86388413-chr11:86431673..86434550,2	MCF-7	breast:
5	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
6	chr11:45824220..45826354-chr11:86384922..86387256,2	MCF-7	breast:
7	chr11:86319147..86319873-chr11:86387109..86388108,3	MCF-7	breast:
8	chr11:86385294..86387589-chr11:86488948..86490956,2	MCF-7	breast:
9	chr11:86386572..86388133-chr11:86414965..86416556,2	MCF-7	breast:
10	chr11:86387229..86387842-chr11:86510373..86511197,2	MCF-7	breast:

No data

Variant related genes	Relation type
ME3	TF binding region
ENSG00000181830	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10792872	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493010	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs503155	0.86[EUR][1000 genomes]
rs538058	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs539805	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs567615	0.85[ASN][1000 genomes]
rs589887	0.85[ASN][1000 genomes]
rs591060	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs609885	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs624183	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs661954	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs668753	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs674053	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679220	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs688119	0.82[AMR][1000 genomes];0.93[EUR][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	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	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86383800-86387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:86383800-86387600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:86383800-86387800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:86383800-86387800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:86383800-86388600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:86383800-86389200	Weak transcription	Right Atrium	heart
7	chr11:86383800-86389200	Weak transcription	HSMM	muscle
8	chr11:86383800-86391600	Weak transcription	Right Ventricle	heart
9	chr11:86383800-86393000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:86383800-86393200	Weak transcription	Aorta	Aorta
11	chr11:86384000-86388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:86384000-86388400	Weak transcription	Brain Germinal Matrix	brain
13	chr11:86384000-86389400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:86384000-86389400	Weak transcription	Osteobl	bone
15	chr11:86384000-86392000	Weak transcription	Fetal Lung	lung
16	chr11:86384200-86389200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:86384200-86389400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:86384200-86389600	Weak transcription	NHLF	lung
19	chr11:86384400-86387400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:86384400-86388000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:86384400-86389200	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:86384400-86389400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:86384400-86389400	Weak transcription	Brain Angular Gyrus	brain
24	chr11:86384400-86390200	Enhancers	Colon Smooth Muscle	Colon
25	chr11:86384400-86392600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:86384800-86387600	Weak transcription	Left Ventricle	heart
27	chr11:86384800-86389200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:86384800-86389400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:86384800-86389400	Weak transcription	Fetal Brain Male	brain
30	chr11:86384800-86389400	Weak transcription	Fetal Heart	heart
31	chr11:86384800-86393200	Weak transcription	Pancreas	Pancrea
32	chr11:86384800-86397800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:86384800-86400400	Weak transcription	Gastric	stomach
34	chr11:86385200-86411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:86385400-86388400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr11:86385600-86391600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:86386200-86388400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:86386400-86387600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:86386400-86388000	Enhancers	Stomach Smooth Muscle	stomach
40	chr11:86386400-86389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:86386400-86391600	Weak transcription	Stomach Mucosa	stomach
42	chr11:86386600-86387600	Weak transcription	Colonic Mucosa	Colon
43	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:86387000-86387600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:86387000-86388200	Enhancers	A549	lung
46	chr11:86387000-86388400	Enhancers	Psoas Muscle	Psoas
47	chr11:86387000-86390800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:86387000-86390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:86387000-86392800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:86387200-86387800	Enhancers	Fetal Intestine Large	intestine

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