Variant report

Variant	esv3391752
Chromosome Location	chr11:67293176-67297174
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	ARID3A	chr11:67295808-67295992	K562	blood:	n/a	n/a
2	ARID3A	chr11:67296979-67297232	K562	blood:	n/a	n/a
3	ATF1	chr11:67296903-67297209	K562	blood:	n/a	n/a
4	BACH1	chr11:67295886-67296202	K562	blood:	n/a	n/a
5	BHLHE40	chr11:67297026-67297054	K562	blood:	n/a	n/a
6	CBX3	chr11:67296911-67297306	K562	blood:	n/a	n/a
7	CEBPB	chr11:67296829-67297303	MCF-7	breast:	n/a	chr11:67297087-67297098
8	CEBPB	chr11:67296959-67297176	HepG2	liver:	n/a	chr11:67297087-67297098
9	CEBPB	chr11:67296873-67297289	IMR90	lung:	n/a	chr11:67297087-67297098
10	CEBPB	chr11:67296823-67297322	K562	blood:	n/a	chr11:67297087-67297098
11	CEBPB	chr11:67296880-67297302	Hela-S3	cervix:	n/a	chr11:67297087-67297098
12	CEBPB	chr11:67295853-67296031	K562	blood:	n/a	n/a
13	CEBPB	chr11:67296900-67297287	HepG2	liver:	n/a	chr11:67297087-67297098
14	CEBPB	chr11:67296731-67297343	ECC-1	luminal epithelium:	n/a	chr11:67297087-67297098
15	CEBPB	chr11:67296766-67297354	HCT-116	colon:	n/a	chr11:67297087-67297098
16	CEBPB	chr11:67296930-67297226	HepG2	liver:	n/a	chr11:67297087-67297098
17	CEBPB	chr11:67296791-67297270	A549	lung:	n/a	chr11:67297087-67297098
18	CEBPB	chr11:67296684-67297326	K562	blood:	n/a	chr11:67297087-67297098
19	CEBPB	chr11:67296897-67297288	H1-hESC	embryonic stem cell:	n/a	chr11:67297087-67297098
20	CEBPB	chr11:67296897-67297286	A549	lung:	n/a	chr11:67297087-67297098
21	CEBPB	chr11:67296816-67297286	HCT-116	colon:	n/a	chr11:67297087-67297098
22	CEBPB	chr11:67294332-67294386	A549	lung:	n/a	n/a
23	CEBPB	chr11:67296800-67297314	ECC-1	luminal epithelium:	n/a	chr11:67297087-67297098
24	CEBPB	chr11:67296824-67297236	K562	blood:	n/a	chr11:67297087-67297098
25	CEBPB	chr11:67296785-67297307	MCF-7	breast:	n/a	chr11:67297087-67297098
26	CEBPB	chr11:67296686-67297312	A549	lung:	n/a	chr11:67297087-67297098
27	CEBPD	chr11:67296766-67297239	K562	blood:	n/a	n/a
28	CEBPD	chr11:67296816-67297287	K562	blood:	n/a	n/a
29	CTCF	chr11:67295512-67295591	Kidney_OC	kidney:	n/a	n/a
30	ELK1	chr11:67295913-67295957	K562	blood:	n/a	n/a
31	EP300	chr11:67296966-67297208	K562	blood:	n/a	n/a
32	EP300	chr11:67295892-67296089	K562	blood:	n/a	n/a
33	FOS	chr11:67295987-67296066	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr11:67296016-67296066	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:67295970-67296064	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:67296879-67297230	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr11:67297015-67297191	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:67296981-67297144	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr11:67296915-67297207	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr11:67295984-67296149	MCF10A-Er-Src	breast:	n/a	n/a
41	HDAC2	chr11:67296996-67297251	K562	blood:	n/a	n/a
42	JUN	chr11:67296965-67297091	K562	blood:	n/a	n/a
43	JUND	chr11:67296944-67297199	K562	blood:	n/a	n/a
44	MAFF	chr11:67295863-67296224	K562	blood:	n/a	chr11:67296036-67296054
45	MAFF	chr11:67295879-67296199	HepG2	liver:	n/a	chr11:67296036-67296054
46	MAFK	chr11:67295882-67296194	Hela-S3	cervix:	n/a	chr11:67296037-67296052
47	MAFK	chr11:67297089-67297115	K562	blood:	n/a	n/a
48	MAFK	chr11:67295886-67296216	HepG2	liver:	n/a	chr11:67296037-67296052
49	MAFK	chr11:67295953-67296156	H1-hESC	embryonic stem cell:	n/a	chr11:67296037-67296052
50	MAFK	chr11:67295860-67296220	HepG2	liver:	n/a	chr11:67296037-67296052

No.	Distal block	Cell Line	Cell type
1	chr11:67285570..67287350-chr11:67292453..67294467,2	K562	blood:
2	chr11:67295335..67297469-chr11:67299998..67302270,2	K562	blood:
3	chr11:67291707..67294024-chr11:67298086..67300764,2	K562	blood:
4	chr11:67289788..67291298-chr11:67292461..67295008,2	MCF-7	breast:
5	chr11:67292879..67295670-chr11:67296775..67299286,2	K562	blood:
6	chr11:67250152..67252355-chr11:67294280..67297163,2	K562	blood:
7	chr11:67294127..67296248-chr11:67310062..67312505,2	MCF-7	breast:
8	chr11:67292879..67295670-chr11:67296775..67299286,2	K562	blood:
9	chr11:67274940..67277699-chr11:67296103..67298590,3	MCF-7	breast:

Variant related genes	Relation type
CABP2	TF binding region
ENSG00000167791	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000167797	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372432244	chr11:67293194-67293195	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561607548	chr11:67293216-67293217	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1871034	chr11:67293234-67293235	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs147118565	chr11:67293269-67293270	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186168099	chr11:67293321-67293322	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572014976	chr11:67293367-67293368	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559314033	chr11:67293375-67293376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533502708	chr11:67293402-67293403	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1871033	chr11:67293428-67293429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138516190	chr11:67293448-67293449	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530980310	chr11:67293477-67293478	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61498966	chr11:67293478-67293479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567914420	chr11:67293530-67293531	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115251065	chr11:67293538-67293539	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554562074	chr11:67293552-67293553	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190641254	chr11:67293609-67293610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182751151	chr11:67293612-67293613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77497877	chr11:67293651-67293652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56673701	chr11:67293652-67293653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576194553	chr11:67293657-67293658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34440083	chr11:67293672-67293673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536798224	chr11:67293677-67293678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555138986	chr11:67293686-67293687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576102136	chr11:67293689-67293690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147257646	chr11:67293708-67293709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540912042	chr11:67293717-67293718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138714003	chr11:67293731-67293732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577931597	chr11:67293753-67293754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149386180	chr11:67293782-67293783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565269850	chr11:67293796-67293797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369632809	chr11:67293803-67293804	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563594509	chr11:67293838-67293839	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531139012	chr11:67293869-67293870	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543740077	chr11:67293904-67293905	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371435968	chr11:67293940-67293941	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549647784	chr11:67293954-67293955	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs61889896	chr11:67293975-67293976	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs577360353	chr11:67293991-67293992	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528820668	chr11:67294001-67294002	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564046830	chr11:67294024-67294025	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547283560	chr11:67294077-67294078	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs186591014	chr11:67294084-67294085	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539022704	chr11:67294099-67294100	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112106002	chr11:67294108-67294109	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112783244	chr11:67294118-67294119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113405317	chr11:67294125-67294126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555178075	chr11:67294164-67294165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4930429	chr11:67294170-67294171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191002566	chr11:67294171-67294172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534625728	chr11:67294188-67294189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67290400-67294200	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr11:67291000-67294000	Enhancers	Colonic Mucosa	Colon
3	chr11:67291200-67293400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:67292000-67293400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:67292200-67293600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:67292200-67293800	Enhancers	Duodenum Mucosa	Duodenum
7	chr11:67292600-67293400	Enhancers	Pancreas	Pancrea
8	chr11:67292600-67294200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr11:67292800-67293600	Enhancers	Liver	Liver
10	chr11:67292800-67293600	Enhancers	Fetal Intestine Large	intestine
11	chr11:67292800-67293600	Enhancers	Fetal Intestine Small	intestine
12	chr11:67292800-67297600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:67293000-67293200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr11:67293000-67293400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:67293200-67293600	Enhancers	Stomach Mucosa	stomach
16	chr11:67293400-67294200	Weak transcription	Pancreas	Pancrea
17	chr11:67294000-67294200	Enhancers	K562	blood
18	chr11:67294200-67294400	Enhancers	Pancreas	Pancrea
19	chr11:67294200-67297000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:67294400-67295800	Weak transcription	K562	blood
21	chr11:67294400-67300400	Weak transcription	Pancreas	Pancrea
22	chr11:67295600-67296200	Enhancers	Hela-S3	cervix
23	chr11:67295800-67296400	Enhancers	K562	blood
24	chr11:67296000-67296200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:67296200-67296600	Weak transcription	Hela-S3	cervix
26	chr11:67296400-67296800	Weak transcription	K562	blood
27	chr11:67296600-67297400	Enhancers	Hela-S3	cervix
28	chr11:67296800-67297200	Enhancers	HMEC	breast
29	chr11:67296800-67297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:67296800-67297600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:67296800-67297600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:67296800-67297600	Enhancers	K562	blood
33	chr11:67296800-67297800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr11:67296800-67297800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:67297000-67297200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr11:67297000-67297400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:67297000-67297600	Bivalent Enhancer	Placenta	Placenta
38	chr11:67297000-67297800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:67297000-67298200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:67297000-67298200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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