Variant report

Variant	esv3411338
Chromosome Location	chr11:34360548-34362657
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	chr11:34360799-34361380	HepG2	liver:	n/a	n/a
2	BCL11A	chr11:34360766-34361087	GM12878	blood:	n/a	n/a
3	BCL3	chr11:34360702-34361332	A549	lung:	n/a	n/a
4	BCL3	chr11:34360618-34361152	A549	lung:	n/a	n/a
5	BHLHE40	chr11:34360785-34361082	GM12878	blood:	n/a	n/a
6	CEBPB	chr11:34360816-34361282	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:34360879-34361234	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:34360755-34361214	A549	lung:	n/a	n/a
9	CEBPB	chr11:34360778-34361291	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:34360863-34361379	A549	lung:	n/a	n/a
11	CEBPB	chr11:34360798-34361445	HepG2	liver:	n/a	chr11:34361370-34361383
12	CEBPB	chr11:34360601-34361582	A549	lung:	n/a	chr11:34361370-34361383
13	CEBPD	chr11:34360862-34361160	HepG2	liver:	n/a	n/a
14	CEBPD	chr11:34360773-34361106	HepG2	liver:	n/a	n/a
15	CHD2	chr11:34360952-34360995	GM12878	blood:	n/a	n/a
16	EBF1	chr11:34360839-34361077	GM12878	blood:	n/a	n/a
17	ELF1	chr11:34360887-34361346	HepG2	liver:	n/a	n/a
18	ELF1	chr11:34360927-34361262	HepG2	liver:	n/a	n/a
19	EP300	chr11:34360538-34361637	A549	lung:	n/a	n/a
20	EP300	chr11:34360800-34361319	HepG2	liver:	n/a	n/a
21	EP300	chr11:34360619-34361380	A549	lung:	n/a	n/a
22	EP300	chr11:34360754-34361107	GM12878	blood:	n/a	n/a
23	EP300	chr11:34360785-34361168	GM12878	blood:	n/a	n/a
24	EP300	chr11:34360662-34361348	HepG2	liver:	n/a	n/a
25	FOS	chr11:34361231-34361337	MCF10A-Er-Src	breast:	n/a	n/a
26	FOSL2	chr11:34360681-34361494	A549	lung:	n/a	n/a
27	FOXA1	chr11:34360714-34361397	HepG2	liver:	n/a	chr11:34360969-34360981
28	FOXA1	chr11:34360720-34361397	HepG2	liver:	n/a	chr11:34360969-34360981
29	FOXA1	chr11:34360777-34361310	HepG2	liver:	n/a	chr11:34360969-34360981
30	FOXA1	chr11:34360696-34361227	HepG2	liver:	n/a	chr11:34360969-34360981
31	FOXA2	chr11:34360701-34361613	A549	lung:	n/a	chr11:34360969-34360981
32	FOXA2	chr11:34360788-34361497	HepG2	liver:	n/a	chr11:34360969-34360981
33	FOXA2	chr11:34362221-34362714	A549	lung:	n/a	chr11:34362409-34362421
34	FOXA2	chr11:34360670-34361238	A549	lung:	n/a	chr11:34360969-34360981
35	GATA3	chr11:34360701-34361436	A549	lung:	n/a	chr11:34361148-34361159 chr11:34360965-34360974
36	HDAC2	chr11:34360737-34361253	HepG2	liver:	n/a	chr11:34361148-34361162
37	HDAC2	chr11:34360709-34361314	HepG2	liver:	n/a	chr11:34361148-34361162
38	JUND	chr11:34360684-34361139	A549	lung:	n/a	n/a
39	JUND	chr11:34360811-34361296	HepG2	liver:	n/a	n/a
40	JUND	chr11:34360684-34361168	A549	lung:	n/a	n/a
41	MAX	chr11:34360622-34361594	A549	lung:	n/a	n/a
42	MAX	chr11:34360714-34361580	NB4	blood:	n/a	n/a
43	MAX	chr11:34360593-34361784	A549	lung:	n/a	n/a
44	MAX	chr11:34360908-34360917	GM12878	blood:	n/a	n/a
45	MAZ	chr11:34360883-34361173	HepG2	liver:	n/a	n/a
46	MBD4	chr11:34360684-34361305	HepG2	liver:	n/a	n/a
47	MBD4	chr11:34360713-34361386	HepG2	liver:	n/a	n/a
48	MXI1	chr11:34360847-34361287	HepG2	liver:	n/a	n/a
49	MYBL2	chr11:34360616-34361317	HepG2	liver:	n/a	n/a
50	MYBL2	chr11:34360649-34361307	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34283475..34285529-chr11:34358260..34360841,2	MCF-7	breast:
2	chr11:34065587..34067431-chr11:34358883..34361873,2	K562	blood:
3	chr11:34359062..34360575-chr11:34363505..34365400,2	K562	blood:
4	chr11:34357216..34358836-chr11:34360327..34362099,2	K562	blood:
5	chr11:34360672..34363341-chr11:34364599..34366363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254708	TF binding region
ENSG00000254708	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377616865	chr11:34360605-34360606	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545523585	chr11:34360640-34360641	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369237702	chr11:34360702-34360703	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149839499	chr11:34360708-34360709	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145877905	chr11:34360776-34360777	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187734596	chr11:34360805-34360806	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192647738	chr11:34360847-34360848	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528873084	chr11:34360897-34360898	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542568114	chr11:34360909-34360910	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184270512	chr11:34360927-34360928	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554619205	chr11:34360952-34360953	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531407070	chr11:34360955-34360956	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148394256	chr11:34360958-34360959	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571490183	chr11:34360992-34360993	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375541632	chr11:34361013-34361014	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566630537	chr11:34361034-34361035	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547685491	chr11:34361073-34361074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567993083	chr11:34361078-34361079	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536555962	chr11:34361228-34361229	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76042353	chr11:34361268-34361269	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569973915	chr11:34361312-34361313	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369824405	chr11:34361335-34361336	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539101478	chr11:34361378-34361379	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188839191	chr11:34361400-34361401	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577890355	chr11:34361460-34361461	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530477160	chr11:34361469-34361470	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147583729	chr11:34361475-34361476	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs199902623	chr11:34361590-34361591	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376974012	chr11:34361591-34361592	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71457337	chr11:34361595-34361596	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71457338	chr11:34361611-34361612	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs397946759	chr11:34361614-34361615	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79593188	chr11:34361615-34361616	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs202124950	chr11:34361617-34361618	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200343261	chr11:34361619-34361620	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573831552	chr11:34361645-34361646	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542577394	chr11:34361653-34361654	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374628371	chr11:34361677-34361678	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562468786	chr11:34361710-34361711	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531237844	chr11:34361721-34361722	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544679877	chr11:34361739-34361740	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181789840	chr11:34361741-34361742	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527873957	chr11:34361758-34361759	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2745916	chr11:34361785-34361786	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs72916710	chr11:34361786-34361787	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145927696	chr11:34361828-34361829	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570019217	chr11:34361830-34361831	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184719182	chr11:34361863-34361864	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552701244	chr11:34361865-34361866	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs72916711	chr11:34361880-34361881	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34351800-34363800	Weak transcription	Left Ventricle	heart
2	chr11:34352600-34363800	Weak transcription	Gastric	stomach
3	chr11:34353200-34360800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:34353200-34365400	Weak transcription	Pancreas	Pancrea
5	chr11:34353400-34362800	Weak transcription	Right Atrium	heart
6	chr11:34353800-34360800	Weak transcription	HSMMtube	muscle
7	chr11:34354000-34360800	Weak transcription	HSMM	muscle
8	chr11:34354400-34360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:34354400-34362200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:34354400-34363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:34354400-34366600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:34354600-34362600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:34354600-34363000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:34354600-34363800	Weak transcription	NH-A	brain
15	chr11:34354800-34363000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:34355600-34360600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:34356200-34361800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:34356400-34360800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:34357000-34360600	Enhancers	A549	lung
20	chr11:34358000-34361000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:34358200-34362000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:34358400-34360600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr11:34359000-34361000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:34359000-34362400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:34359400-34360600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:34359400-34360800	Weak transcription	Thymus	Thymus
27	chr11:34359400-34364400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:34359600-34362400	Enhancers	Primary B cells from cord blood	blood
29	chr11:34359600-34362400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:34360000-34360600	Enhancers	HepG2	liver
31	chr11:34360000-34362200	Weak transcription	Fetal Thymus	thymus
32	chr11:34360000-34362400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:34360200-34368400	Enhancers	Liver	Liver
34	chr11:34360400-34361200	Enhancers	Primary T cells from cord blood	blood
35	chr11:34360400-34361400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:34360400-34361400	Weak transcription	Psoas Muscle	Psoas
37	chr11:34360400-34361600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:34360400-34361600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:34360400-34361800	Enhancers	GM12878-XiMat	blood
40	chr11:34360600-34360800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr11:34360600-34361000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:34360600-34361400	Flanking Active TSS	HepG2	liver
43	chr11:34360600-34361600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:34360600-34362000	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:34360600-34362000	Enhancers	Lung	lung
46	chr11:34360600-34362000	Flanking Active TSS	A549	lung
47	chr11:34360800-34361000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:34360800-34361000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr11:34360800-34361000	Enhancers	Thymus	Thymus
50	chr11:34360800-34361200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links