Variant report

Variant	rs10792873
Chromosome Location	chr11:86387651-86387652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

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	CTCF	chr11:86387620-86387770	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr11:86387640-86387790	K562	blood:	n/a	n/a
4	CTCF	chr11:86387640-86387790	GM12866	blood:	n/a	n/a
5	CTCF	chr11:86387640-86387790	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr11:86387640-86387790	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr11:86387614-86387785	LNCaP	prostate:	n/a	n/a
8	RAD21	chr11:86387508-86388038	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:86387620-86387770	BE2_C	brain:	n/a	n/a
10	CTCF	chr11:86387620-86387770	GM12864	blood:	n/a	n/a
11	MAX	chr11:86387641-86387818	K562	blood:	n/a	n/a
12	CTCF	chr11:86387640-86387790	GM12865	blood:	n/a	n/a
13	CTCF	chr11:86387620-86387770	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr11:86387640-86387790	HVMF	connective:	n/a	n/a
15	CTCF	chr11:86387620-86387770	SK-N-SH_RA	brain:	n/a	n/a
16	MAZ	chr11:86387580-86387912	K562	blood:	n/a	n/a
17	CTCF	chr11:86387600-86387750	GM12875	blood:	n/a	n/a
18	RAD21	chr11:86387481-86387969	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr11:86387620-86387770	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr11:86387600-86387750	HAc	cerebellar:	n/a	n/a
21	CTCF	chr11:86387622-86387832	LNCaP	prostate:	n/a	n/a
22	RFX5	chr11:86387466-86388176	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr11:86387620-86387770	HUVEC	blood vessel:	n/a	n/a
24	YY1	chr11:86387620-86387811	HCT-116	colon:	n/a	n/a
25	CTCF	chr11:86387637-86387825	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr11:86387556-86387880	GM12878	blood:	n/a	n/a
27	CTCF	chr11:86387618-86387843	GM12878	blood:	n/a	n/a
28	RAD21	chr11:86387635-86387813	K562	blood:	n/a	n/a
29	CTCF	chr11:86387609-86387851	A549	lung:	n/a	n/a
30	RFX5	chr11:86387601-86387973	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr11:86387648-86387837	GM19240	blood:	n/a	n/a
32	CTCF	chr11:86387620-86387770	K562	blood:	n/a	n/a
33	CTCF	chr11:86387600-86387829	HUVEC	blood vessel:	n/a	n/a
34	RAD21	chr11:86387527-86387971	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr11:86387633-86387847	GM12878	blood:	n/a	n/a
36	CTCF	chr11:86387620-86387770	GM12873	blood:	n/a	n/a
37	ZNF143	chr11:86387576-86387894	K562	blood:	n/a	n/a
38	RAD21	chr11:86387481-86388013	MCF-7	breast:	n/a	n/a
39	MAX	chr11:86387433-86387833	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:86387639-86387831	GM13977	blood:	n/a	n/a
41	CTCF	chr11:86387631-86387813	SK-N-SH_RA	brain:	n/a	n/a
42	RAD21	chr11:86387602-86387780	GM12878	blood:	n/a	n/a
43	SMC3	chr11:86387599-86387798	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr11:86387580-86387730	AG09319	gingival:	n/a	n/a
45	CTCF	chr11:86387640-86387790	GM12874	blood:	n/a	n/a
46	TEAD4	chr11:86387571-86387989	H1-hESC	embryonic stem cell:	n/a	n/a
47	RFX5	chr11:86387527-86388165	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:86387636-86387822	MCF-7	breast:	n/a	n/a
49	CTCF	chr11:86387514-86387929	K562	blood:	n/a	n/a
50	CTCF	chr11:86387640-86387790	GM12869	blood:	n/a	n/a

No data

(count:9 , 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	chr11:86386572..86388133-chr11:86414965..86416556,2	MCF-7	breast:
9	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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1938936	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs642245	0.93[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86383800-86387800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:86383800-86387800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:86383800-86388600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:86383800-86389200	Weak transcription	Right Atrium	heart
5	chr11:86383800-86389200	Weak transcription	HSMM	muscle
6	chr11:86383800-86391600	Weak transcription	Right Ventricle	heart
7	chr11:86383800-86393000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:86383800-86393200	Weak transcription	Aorta	Aorta
9	chr11:86384000-86388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:86384000-86388400	Weak transcription	Brain Germinal Matrix	brain
11	chr11:86384000-86389400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:86384000-86389400	Weak transcription	Osteobl	bone
13	chr11:86384000-86392000	Weak transcription	Fetal Lung	lung
14	chr11:86384200-86389200	Weak transcription	Brain Anterior Caudate	brain
15	chr11:86384200-86389400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:86384200-86389600	Weak transcription	NHLF	lung
17	chr11:86384400-86388000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:86384400-86389200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:86384400-86389400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:86384400-86389400	Weak transcription	Brain Angular Gyrus	brain
21	chr11:86384400-86390200	Enhancers	Colon Smooth Muscle	Colon
22	chr11:86384400-86392600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:86384800-86389200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:86384800-86389400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:86384800-86389400	Weak transcription	Fetal Brain Male	brain
26	chr11:86384800-86389400	Weak transcription	Fetal Heart	heart
27	chr11:86384800-86393200	Weak transcription	Pancreas	Pancrea
28	chr11:86384800-86397800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:86384800-86400400	Weak transcription	Gastric	stomach
30	chr11:86385200-86411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:86385400-86388400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr11:86385600-86391600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:86386200-86388400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:86386400-86388000	Enhancers	Stomach Smooth Muscle	stomach
35	chr11:86386400-86389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:86386400-86391600	Weak transcription	Stomach Mucosa	stomach
37	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:86387000-86388200	Enhancers	A549	lung
39	chr11:86387000-86388400	Enhancers	Psoas Muscle	Psoas
40	chr11:86387000-86390800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:86387000-86390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:86387000-86392800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:86387200-86387800	Enhancers	Fetal Intestine Large	intestine
44	chr11:86387200-86388000	Enhancers	Fetal Intestine Small	intestine
45	chr11:86387200-86388000	Enhancers	Rectal Smooth Muscle	rectum
46	chr11:86387400-86388000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:86387400-86388000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:86387400-86389000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:86387400-86390200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr11:86387600-86388000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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