Variant report

Variant	esv3377699
Chromosome Location	chr11:73881256-73881720
allele	n/a
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	BACH1	chr11:73881713-73881910	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr11:73881363-73882653	A549	lung:	n/a	chr11:73881941-73881954 chr11:73882270-73882279 chr11:73881938-73881951
3	CEBPZ	chr11:73881679-73881788	HepG2	liver:	n/a	n/a
4	CHD1	chr11:73881414-73881521	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr11:73881673-73882578	Hela-S3	cervix:	n/a	n/a
6	CREB1	chr11:73881636-73882782	HepG2	liver:	n/a	n/a
7	CREB1	chr11:73881658-73882676	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr11:73881639-73882720	A549	lung:	n/a	chr11:73881894-73881906 chr11:73882108-73882117 chr11:73882010-73882027 chr11:73881917-73881926
9	EGR1	chr11:73881697-73882832	HCT-116	colon:	n/a	chr11:73882138-73882162 chr11:73882319-73882326 chr11:73882108-73882117 chr11:73881917-73881926 chr11:73882290-73882305 chr11:73882270-73882279 chr11:73882042-73882066
10	EGR1	chr11:73881716-73882879	HCT-116	colon:	n/a	chr11:73882138-73882162 chr11:73882319-73882326 chr11:73882108-73882117 chr11:73881917-73881926 chr11:73882290-73882305 chr11:73882270-73882279 chr11:73882042-73882066
11	ELF1	chr11:73881684-73882652	GM12878	blood:	n/a	chr11:73881977-73881988
12	ELF1	chr11:73881562-73882672	MCF-7	breast:	n/a	chr11:73881977-73881988
13	ELF1	chr11:73881549-73882530	SK-N-SH	brain:	n/a	chr11:73881977-73881988
14	ELF1	chr11:73881429-73882711	HCT-116	colon:	n/a	chr11:73881977-73881988
15	ELF1	chr11:73881703-73882532	A549	lung:	n/a	chr11:73881977-73881988
16	ELF1	chr11:73881601-73882446	HepG2	liver:	n/a	chr11:73881977-73881988
17	ELF1	chr11:73881673-73882672	MCF-7	breast:	n/a	chr11:73881977-73881988
18	ELF1	chr11:73881594-73882595	GM12878	blood:	n/a	chr11:73881977-73881988
19	ELF1	chr11:73881451-73882490	K562	blood:	n/a	chr11:73881977-73881988
20	ELF1	chr11:73881706-73882526	SK-N-SH	brain:	n/a	chr11:73881977-73881988
21	ELK1	chr11:73881380-73882639	Hela-S3	cervix:	n/a	chr11:73882270-73882279 chr11:73882270-73882279
22	EP300	chr11:73881705-73882638	A549	lung:	n/a	chr11:73882271-73882278 chr11:73881908-73881924 chr11:73881937-73881953
23	EP300	chr11:73881673-73882574	A549	lung:	n/a	chr11:73882271-73882278 chr11:73881682-73881696 chr11:73881908-73881924 chr11:73881937-73881953
24	ETS1	chr11:73881696-73882597	K562	blood:	n/a	chr11:73882270-73882279 chr11:73882269-73882282 chr11:73882270-73882286 chr11:73882270-73882279 chr11:73882268-73882278 chr11:73882270-73882279 chr11:73882270-73882279 chr11:73882270-73882279 chr11:73882268-73882279 chr11:73882270-73882279 chr11:73882270-73882279 chr11:73882267-73882283
25	ETS1	chr11:73881490-73882615	A549	lung:	n/a	chr11:73882270-73882279 chr11:73882269-73882282 chr11:73882270-73882286 chr11:73882270-73882279 chr11:73882268-73882278 chr11:73882270-73882279 chr11:73882270-73882279 chr11:73882270-73882279 chr11:73882268-73882279 chr11:73882270-73882279 chr11:73882270-73882279 chr11:73882267-73882283
26	ETS1	chr11:73881679-73882592	K562	blood:	n/a	chr11:73882270-73882279 chr11:73882269-73882282 chr11:73882270-73882286 chr11:73882270-73882279 chr11:73882268-73882278 chr11:73882270-73882279 chr11:73882270-73882279 chr11:73882270-73882279 chr11:73882268-73882279 chr11:73882270-73882279 chr11:73882270-73882279 chr11:73882267-73882283
27	FOSL2	chr11:73881649-73882524	A549	lung:	n/a	n/a
28	FOSL2	chr11:73881711-73882045	A549	lung:	n/a	n/a
29	FOXA2	chr11:73881452-73882584	A549	lung:	n/a	n/a
30	FOXA2	chr11:73881566-73882688	A549	lung:	n/a	n/a
31	GABPA	chr11:73881635-73882630	SK-N-SH	brain:	n/a	chr11:73882104-73882118 chr11:73882107-73882121 chr11:73882107-73882116 chr11:73882107-73882118
32	GABPA	chr11:73881547-73882762	SK-N-SH	brain:	n/a	chr11:73882104-73882118 chr11:73882107-73882121 chr11:73882107-73882116 chr11:73882107-73882118
33	GABPA	chr11:73881413-73882733	A549	lung:	n/a	chr11:73882104-73882118 chr11:73882107-73882121 chr11:73882107-73882116 chr11:73882107-73882118
34	GABPA	chr11:73881595-73882723	MCF-7	breast:	n/a	chr11:73882104-73882118 chr11:73882107-73882121 chr11:73882107-73882116 chr11:73882107-73882118
35	GABPA	chr11:73881458-73883003	MCF-7	breast:	n/a	chr11:73882104-73882118 chr11:73882107-73882121 chr11:73882107-73882116 chr11:73882107-73882118
36	GABPA	chr11:73881626-73882592	A549	lung:	n/a	chr11:73882104-73882118 chr11:73882107-73882121 chr11:73882107-73882116 chr11:73882107-73882118
37	GATA1	chr11:73881411-73883531	PBDE	blood:	n/a	chr11:73882711-73882724
38	GTF2F1	chr11:73881476-73882598	Hela-S3	cervix:	n/a	n/a
39	HA-E2F1	chr11:73881608-73882474	MCF-7	breast:	n/a	chr11:73881894-73881906 chr11:73882108-73882117 chr11:73882013-73882024 chr11:73882010-73882027 chr11:73881917-73881926
40	HCFC1	chr11:73880709-73884271	Hela-S3	cervix:	n/a	n/a
41	HCFC1	chr11:73881583-73882571	K562	blood:	n/a	n/a
42	HEY1	chr11:73881603-73882680	HepG2	liver:	n/a	n/a
43	HEY1	chr11:73881694-73882079	K562	blood:	n/a	n/a
44	IRF1	chr11:73881625-73882574	K562	blood:	n/a	n/a
45	JUND	chr11:73881677-73882642	K562	blood:	n/a	n/a
46	JUND	chr11:73881618-73882663	H1-hESC	embryonic stem cell:	n/a	n/a
47	KAP1	chr11:73880955-73882677	HEK293	kidney:	n/a	chr11:73882010-73882018
48	MAFK	chr11:73880809-73881311	K562	blood:	n/a	n/a
49	MAFK	chr11:73881712-73882456	Hela-S3	cervix:	n/a	n/a
50	MAX	chr11:73881712-73882768	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73693723..73696564-chr11:73880690..73883464,7	K562	blood:
2	chr11:73675574..73678297-chr11:73881586..73883661,2	K562	blood:
3	chr11:73780255..73782526-chr11:73881717..73883400,2	MCF-7	breast:
4	chr11:73694022..73695981-chr11:73881444..73883965,2	MCF-7	breast:
5	chr11:73800042..73802110-chr11:73880491..73883383,2	MCF-7	breast:
6	chr11:73692800..73696318-chr11:73880815..73883748,5	MCF-7	breast:
7	chr11:73691455..73695821-chr11:73881160..73884452,10	K562	blood:

Variant related genes	Relation type
PPME1	TF binding region
ENSG00000175567	chromatin interactions
ENSG00000255847	chromatin interactions
ENSG00000187726	chromatin interactions
ENSG00000168014	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535464468	chr11:73881275-73881276	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs555428897	chr11:73881299-73881300	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs186053102	chr11:73881363-73881364	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs141219757	chr11:73881380-73881381	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs557888663	chr11:73881391-73881392	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs190768833	chr11:73881400-73881401	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs543867020	chr11:73881410-73881411	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574648327	chr11:73881428-73881429	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs112926058	chr11:73881445-73881446	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs573826437	chr11:73881449-73881450	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs146946627	chr11:73881457-73881458	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs542081722	chr11:73881461-73881462	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs559359969	chr11:73881489-73881490	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs111686153	chr11:73881527-73881528	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs528754326	chr11:73881556-73881557	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs545377623	chr11:73881560-73881561	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs137913578	chr11:73881564-73881565	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs3814724	chr11:73881580-73881581	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549819964	chr11:73881582-73881583	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs374814436	chr11:73881610-73881611	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs529031294	chr11:73881630-73881631	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs548998685	chr11:73881704-73881705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs565683662	chr11:73881706-73881707	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs574186872	chr11:73881708-73881709	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs542791934	chr11:73881711-73881712	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73879800-73881400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:73880000-73881400	Flanking Active TSS	Dnd41	blood
3	chr11:73880200-73886600	Active TSS	HSMMtube	muscle
4	chr11:73880400-73881400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:73880400-73881400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:73880400-73883000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:73880600-73881400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:73880600-73881400	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr11:73880600-73881400	Flanking Active TSS	Fetal Brain Female	brain
10	chr11:73880600-73881400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:73880600-73881400	Flanking Active TSS	Hela-S3	cervix
12	chr11:73880600-73881400	Flanking Active TSS	HUVEC	blood vessel
13	chr11:73880600-73881400	Flanking Active TSS	NH-A	brain
14	chr11:73880600-73881600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:73880600-73881600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:73880600-73881800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr11:73880600-73881800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:73880600-73882000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr11:73880600-73883600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:73880600-73883600	Active TSS	Right Atrium	heart
21	chr11:73880600-73883600	Active TSS	A549	lung
22	chr11:73880600-73883800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:73880800-73881400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:73880800-73881400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:73880800-73881400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:73880800-73881400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr11:73880800-73881400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr11:73880800-73881400	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr11:73880800-73881400	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr11:73880800-73881400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:73880800-73881400	Flanking Active TSS	Fetal Brain Male	brain
32	chr11:73880800-73881400	Flanking Active TSS	Fetal Kidney	kidney
33	chr11:73880800-73881400	Flanking Active TSS	Fetal Lung	lung
34	chr11:73880800-73881400	Flanking Active TSS	Fetal Stomach	stomach
35	chr11:73880800-73881400	Flanking Active TSS	Fetal Thymus	thymus
36	chr11:73880800-73881400	Flanking Active TSS	Pancreas	Pancrea
37	chr11:73880800-73881400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:73880800-73881400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:73880800-73881400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr11:73880800-73881400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:73880800-73881400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr11:73880800-73881400	Flanking Active TSS	HMEC	breast
43	chr11:73880800-73881600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:73880800-73881600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:73880800-73881600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:73880800-73881600	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:73880800-73881600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:73880800-73881600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:73880800-73881600	Enhancers	Spleen	Spleen
50	chr11:73880800-73881600	Flanking Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links