Variant report

Variant	nsv946383
Chromosome Location	chr1:150025994-150026975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149853918..149856291-chr1:150026219..150029011,2	K562	blood:
2	chr1:149858594..149860168-chr1:150024352..150026596,2	MCF-7	breast:
3	chr1:149858020..149860517-chr1:150024579..150026129,2	MCF-7	breast:
4	chr1:150025906..150027967-chr1:150037390..150039741,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178096	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000136631	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000184260	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191540580	chr1:150026029-150026030	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs141300605	chr1:150026103-150026104	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs371284333	chr1:150026128-150026129	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs150804025	chr1:150026134-150026135	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs142546799	chr1:150026142-150026143	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs587613213	chr1:150026153-150026154	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs587698749	chr1:150026158-150026159	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs587755954	chr1:150026190-150026191	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs11205321	chr1:150026207-150026208	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs587698150	chr1:150026234-150026235	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs114436157	chr1:150026383-150026384	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113607766	chr1:150026544-150026545	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs145259240	chr1:150026554-150026555	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs183106050	chr1:150026604-150026605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112962973	chr1:150026626-150026627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs587716683	chr1:150026629-150026630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140441527	chr1:150026632-150026633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186890034	chr1:150026654-150026655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192096972	chr1:150026718-150026719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587631509	chr1:150026745-150026746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs587666672	chr1:150026754-150026755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12744987	chr1:150026763-150026764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1273325	chr1:150026774-150026775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12729819	chr1:150026786-150026787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12752671	chr1:150026817-150026818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7540847	chr1:150026823-150026824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs587619693	chr1:150026840-150026841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587669901	chr1:150026845-150026846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373737590	chr1:150026875-150026876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34893870	chr1:150026881-150026882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587743116	chr1:150026965-150026966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184311052	chr1:150026971-150026972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149996600-150037000	Weak transcription	Left Ventricle	heart
2	chr1:150017600-150026200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:150017600-150037600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:150017800-150026000	Weak transcription	Osteobl	bone
5	chr1:150018000-150031600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:150018000-150033400	Weak transcription	Fetal Stomach	stomach
7	chr1:150018200-150038600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:150022800-150032400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:150022800-150037200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:150022800-150038600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:150023000-150026000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:150023000-150028600	Weak transcription	Primary B cells from cord blood	blood
13	chr1:150023000-150033600	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:150024200-150026000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:150024400-150026000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:150024400-150026000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:150025200-150027200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:150025400-150026600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:150025600-150026000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:150025800-150026000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:150025800-150026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:150025800-150026200	Flanking Active TSS	GM12878-XiMat	blood
23	chr1:150025800-150026400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:150025800-150026400	Enhancers	Adipose Nuclei	Adipose
25	chr1:150025800-150026400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:150025800-150026400	Enhancers	Fetal Thymus	thymus
27	chr1:150025800-150026400	Enhancers	Psoas Muscle	Psoas
28	chr1:150025800-150026400	Enhancers	Right Atrium	heart
29	chr1:150025800-150027000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:150026000-150026200	Enhancers	Brain Anterior Caudate	brain
31	chr1:150026000-150026200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:150026000-150026400	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:150026000-150026400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:150026000-150026400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:150026000-150026400	Enhancers	NHDF-Ad	bronchial
36	chr1:150026000-150026400	Enhancers	NHLF	lung
37	chr1:150026000-150026400	Enhancers	Osteobl	bone
38	chr1:150026000-150026600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr1:150026200-150026400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:150026200-150026600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:150026200-150026600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:150026200-150026600	Enhancers	Spleen	Spleen
43	chr1:150026200-150026600	Enhancers	GM12878-XiMat	blood
44	chr1:150026400-150026600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:150026400-150027000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:150026400-150033600	Weak transcription	NHDF-Ad	bronchial
47	chr1:150026400-150033800	Weak transcription	Right Atrium	heart
48	chr1:150026600-150029600	Enhancers	Primary neutrophils fromperipheralblood	blood

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