Variant report

Variant	esv3459263
Chromosome Location	chr11:34108815-34109205
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	FOS	chr11:34108551-34108821	MCF10A-Er-Src	breast:	n/a	chr11:34108678-34108688 chr11:34108679-34108688 chr11:34108680-34108687 chr11:34108678-34108687
2	FOS	chr11:34108514-34108845	MCF10A-Er-Src	breast:	n/a	chr11:34108678-34108688 chr11:34108679-34108688 chr11:34108680-34108687 chr11:34108678-34108687
3	POLR2A	chr11:34109186-34109598	K562	blood:	n/a	n/a
4	POLR2A	chr11:34109167-34109187	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:34109199-34109480	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:34108904-34109085	K562	blood:	n/a	n/a
7	POLR2A	chr11:34109044-34110388	SK-N-MC	brain:	n/a	n/a
8	STAT3	chr11:34108521-34108850	MCF10A-Er-Src	breast:	n/a	chr11:34108694-34108705 chr11:34108696-34108704 chr11:34108679-34108688

No.	Distal block	Cell Line	Cell type
1	chr11:34098911..34101667-chr11:34106507..34109187,2	MCF-7	breast:
2	chr11:34106069..34110524-chr11:34130126..34133963,4	K562	blood:
3	chr11:34072805..34076700-chr11:34102916..34109372,5	MCF-7	breast:
4	chr11:34073481..34075734-chr11:34105011..34109017,4	MCF-7	breast:
5	chr11:34106541..34110325-chr11:34122744..34126295,3	K562	blood:
6	chr11:34108216..34109873-chr11:34119839..34122564,2	MCF-7	breast:

Variant related genes	Relation type
CAPRIN1	TF binding region
ENSG00000135387	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145425116	chr11:34108822-34108823	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs191667832	chr11:34108832-34108833	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs17777985	chr11:34108835-34108836	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184777723	chr11:34108870-34108871	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs5790975	chr11:34108876-34108877	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187710527	chr11:34108917-34108918	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573143717	chr11:34109017-34109018	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192386158	chr11:34109030-34109031	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562270164	chr11:34109038-34109039	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs4635052	chr11:34109081-34109082	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189382630	chr11:34109113-34109114	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530766536	chr11:34109115-34109116	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555068561	chr11:34109116-34109117	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573221338	chr11:34109122-34109123	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549013529	chr11:34109126-34109127	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564541511	chr11:34109131-34109132	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533468514	chr11:34109174-34109175	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552360343	chr11:34109175-34109176	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567406639	chr11:34109176-34109177	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534561587	chr11:34109177-34109178	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528607282	chr11:34109188-34109189	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34079000-34126600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34083400-34126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:34083600-34124800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:34088600-34110800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:34088600-34124600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:34088800-34124000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:34091000-34123400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:34091000-34123400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:34091200-34123600	Strong transcription	Dnd41	blood
10	chr11:34091600-34123800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:34091600-34124200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:34091800-34123400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:34091800-34124200	Strong transcription	Fetal Thymus	thymus
14	chr11:34091800-34124600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:34091800-34124800	Strong transcription	Fetal Intestine Large	intestine
16	chr11:34092000-34119800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:34092600-34110600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:34092600-34122200	Strong transcription	Fetal Brain Female	brain
19	chr11:34092600-34123000	Strong transcription	GM12878-XiMat	blood
20	chr11:34092600-34123400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:34092600-34124800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:34092600-34125000	Strong transcription	Liver	Liver
23	chr11:34093000-34110600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:34093000-34122400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:34093200-34122400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:34093200-34123200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr11:34093200-34123400	Strong transcription	Placenta	Placenta
28	chr11:34093400-34122400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:34093400-34123000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr11:34093400-34124000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr11:34093600-34116600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:34093600-34125000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:34094000-34124000	Strong transcription	Fetal Lung	lung
34	chr11:34095000-34119600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:34096600-34110600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:34096600-34124000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:34096800-34122400	Strong transcription	Primary T cells from cord blood	blood
38	chr11:34097000-34123400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:34097200-34123400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:34097200-34126200	Weak transcription	Stomach Mucosa	stomach
41	chr11:34097400-34110600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:34097400-34110600	Strong transcription	Brain Anterior Caudate	brain
43	chr11:34097400-34123000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:34097600-34122400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:34097600-34122600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr11:34097600-34123200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:34097800-34110400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:34098000-34110800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr11:34098000-34124000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:34098000-34124000	Strong transcription	Osteobl	bone

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