Variant report

Variant	esv3349720
Chromosome Location	chr1:147017333-147017729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:147015861..147018726-chr1:147069919..147072296,3	MCF-7	breast:
2	chr1:147016993..147019863-chr1:147022177..147023748,3	MCF-7	breast:
3	chr1:147014865..147017655-chr1:147069985..147072469,3	MCF-7	breast:
4	chr1:147016778..147019851-chr1:147026227..147029377,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116128	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140235739	chr1:147017342-147017343	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181965904	chr1:147017350-147017351	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs587767677	chr1:147017381-147017382	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144090457	chr1:147017412-147017413	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147313116	chr1:147017442-147017443	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587751239	chr1:147017448-147017449	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12072533	chr1:147017524-147017525	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs587710722	chr1:147017536-147017537	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs587627685	chr1:147017545-147017546	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370579461	chr1:147017548-147017549	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs587746282	chr1:147017580-147017581	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186338238	chr1:147017599-147017600	Flanking Active TSS Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148721646	chr1:147017642-147017643	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs587687083	chr1:147017646-147017647	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74125727	chr1:147017714-147017715	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147013400-147017600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr1:147014000-147017600	Enhancers	Dnd41	blood
3	chr1:147014400-147017800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:147014400-147018400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:147014400-147018400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:147014400-147018800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:147014400-147020200	Weak transcription	Esophagus	oesophagus
8	chr1:147014600-147017600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:147014600-147018000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:147014600-147018800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:147014800-147017400	Flanking Active TSS	Fetal Brain Female	brain
12	chr1:147014800-147017400	Enhancers	Fetal Heart	heart
13	chr1:147014800-147018600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:147015000-147018400	Enhancers	Fetal Thymus	thymus
15	chr1:147015000-147021800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:147015200-147017400	Enhancers	Fetal Intestine Large	intestine
17	chr1:147015200-147017400	Enhancers	Fetal Intestine Small	intestine
18	chr1:147015200-147017800	Enhancers	Colon Smooth Muscle	Colon
19	chr1:147015200-147032200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:147015400-147017600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:147015600-147017800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:147015600-147018000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:147015600-147018000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:147015800-147017400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:147015800-147017400	Enhancers	Fetal Lung	lung
26	chr1:147015800-147017600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:147015800-147017800	Weak transcription	Aorta	Aorta
28	chr1:147016000-147017400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:147016000-147017400	Enhancers	Fetal Brain Male	brain
30	chr1:147016000-147017600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:147016200-147017400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:147016200-147017600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:147016200-147017600	Enhancers	Fetal Kidney	kidney
34	chr1:147016200-147020000	Weak transcription	Ovary	ovary
35	chr1:147016200-147021600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:147016200-147023000	Weak transcription	Right Atrium	heart
37	chr1:147016400-147017600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr1:147016400-147017800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:147016400-147027000	Weak transcription	Fetal Stomach	stomach
40	chr1:147016600-147017400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:147016600-147017600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:147016600-147017600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr1:147016600-147017600	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:147016600-147017600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:147016600-147017600	Enhancers	HMEC	breast
46	chr1:147016600-147017600	Enhancers	HSMMtube	muscle
47	chr1:147016600-147017800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:147016600-147017800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:147016600-147017800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:147016600-147017800	Enhancers	Osteobl	bone

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