Variant report

Variant	rs72959431
Chromosome Location	chr11:86387520-86387521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:86387502-86387891	IMR90	lung:	n/a	n/a
2	RAD21	chr11:86387508-86388038	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr11:86387481-86387969	ECC-1	luminal epithelium:	n/a	n/a
4	RFX5	chr11:86387466-86388176	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr11:86387481-86388013	MCF-7	breast:	n/a	n/a
6	MAFK	chr11:86387507-86387628	HepG2	liver:	n/a	n/a
7	MAX	chr11:86387433-86387833	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:86387514-86387929	K562	blood:	n/a	n/a
9	RAD21	chr11:86387435-86387998	HCT-116	colon:	n/a	n/a
10	RAD21	chr11:86387397-86388006	MCF-7	breast:	n/a	n/a
11	RAD21	chr11:86387443-86388012	HCT-116	colon:	n/a	n/a
12	CTCF	chr11:86387373-86388057	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr11:86387518-86387889	K562	blood:	n/a	n/a
14	CTCF	chr11:86386929-86388099	A549	lung:	n/a	n/a
15	YY1	chr11:86387478-86387993	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:86387451-86387911	A549	lung:	n/a	n/a
17	YY1	chr11:86387501-86387946	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr11:86387501-86387936	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr11:86387453-86387934	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:86387439-86388026	K562	blood:	n/a	n/a
21	CTCF	chr11:86387504-86387956	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr11:86387501-86388033	ECC-1	luminal epithelium:	n/a	n/a
23	TEAD4	chr11:86387496-86387956	ECC-1	luminal epithelium:	n/a	n/a
24	KAP1	chr11:86387459-86387932	U2OS	brain:	n/a	n/a
25	RAD21	chr11:86387512-86388030	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	chr11:86387500..86388166-chr11:86513307..86514298,2	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
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10501626	0.87[ASN][1000 genomes]
rs11234738	0.82[ASN][1000 genomes]
rs11234739	0.81[ASN][1000 genomes]
rs12573953	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12574672	0.87[EUR][1000 genomes]
rs12575285	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12575580	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17211458	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17211563	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17211584	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17818784	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17818845	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17819523	0.86[ASN][1000 genomes]
rs17819683	0.87[ASN][1000 genomes]
rs1945142	0.87[ASN][1000 genomes]
rs2226566	0.87[ASN][1000 genomes]
rs471780	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs539214	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs543336	0.81[ASN][1000 genomes]
rs56095595	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56140354	0.87[ASN][1000 genomes]
rs56935647	0.85[ASN][1000 genomes]
rs581796	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60229086	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs602498	0.81[ASN][1000 genomes]
rs60379752	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs623785	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs659301	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66878934	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66909667	0.87[ASN][1000 genomes]
rs67112634	0.87[ASN][1000 genomes]
rs67655324	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs686768	0.83[EUR][1000 genomes]
rs687138	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72955481	0.82[ASN][1000 genomes]
rs72957414	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72957420	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72957437	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72957439	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72957441	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72957457	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72957470	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72957473	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72957476	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72959410	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72959413	0.92[ASN][1000 genomes]
rs72959421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72959427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72961766	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72961771	0.84[ASN][1000 genomes]
rs7480835	0.87[ASN][1000 genomes]
rs7933920	0.81[ASN][1000 genomes]
rs949348	0.82[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	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:55 , 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	chr11:86384400-86388000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:86384400-86389200	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:86384400-86389400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:86384400-86389400	Weak transcription	Brain Angular Gyrus	brain
23	chr11:86384400-86390200	Enhancers	Colon Smooth Muscle	Colon
24	chr11:86384400-86392600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:86384800-86387600	Weak transcription	Left Ventricle	heart
26	chr11:86384800-86389200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:86384800-86389400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:86384800-86389400	Weak transcription	Fetal Brain Male	brain
29	chr11:86384800-86389400	Weak transcription	Fetal Heart	heart
30	chr11:86384800-86393200	Weak transcription	Pancreas	Pancrea
31	chr11:86384800-86397800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:86384800-86400400	Weak transcription	Gastric	stomach
33	chr11:86385200-86411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:86385400-86388400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr11:86385600-86391600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:86386200-86388400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:86386400-86387600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:86386400-86388000	Enhancers	Stomach Smooth Muscle	stomach
39	chr11:86386400-86389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:86386400-86391600	Weak transcription	Stomach Mucosa	stomach
41	chr11:86386600-86387600	Weak transcription	Colonic Mucosa	Colon
42	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:86387000-86387600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:86387000-86388200	Enhancers	A549	lung
45	chr11:86387000-86388400	Enhancers	Psoas Muscle	Psoas
46	chr11:86387000-86390800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:86387000-86390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:86387000-86392800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:86387200-86387800	Enhancers	Fetal Intestine Large	intestine
50	chr11:86387200-86388000	Enhancers	Fetal Intestine Small	intestine

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