Variant report

Variant	nsv947551
Chromosome Location	chr1:172485154-172490045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172485002..172486820-chr1:172486838..172488718,2	K562	blood:
2	chr1:172485002..172486820-chr1:172486838..172488718,2	K562	blood:
3	chr1:172486572..172488602-chr1:172489902..172492194,2	K562	blood:
4	chr1:172483189..172485806-chr1:172499589..172502830,4	K562	blood:
5	chr1:172486406..172489055-chr1:172490176..172492363,2	MCF-7	breast:
6	chr1:172451708..172453272-chr1:172488992..172491828,2	MCF-7	breast:
7	chr1:172466607..172473945-chr1:172474467..172485611,18	MCF-7	breast:
8	chr1:172486127..172488704-chr1:172497575..172501072,3	MCF-7	breast:
9	chr1:172480916..172486057-chr1:172500075..172503818,11	MCF-7	breast:
10	chr1:172486572..172488602-chr1:172489902..172492194,2	K562	blood:
11	chr1:172483753..172487380-chr1:172490870..172493314,3	MCF-7	breast:
12	chr1:172484339..172486754-chr1:172500823..172503180,2	MCF-7	breast:
13	chr1:172456081..172458698-chr1:172485174..172488166,2	K562	blood:
14	chr1:172479206..172481106-chr1:172488618..172491452,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000094975	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs2022070	chr1:172485161-172485162	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374684661	chr1:172485214-172485215	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114142083	chr1:172485270-172485271	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531779120	chr1:172485353-172485354	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190441984	chr1:172485354-172485355	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528054687	chr1:172485365-172485366	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148694563	chr1:172485383-172485384	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373070123	chr1:172485408-172485409	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532417696	chr1:172485448-172485449	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181628877	chr1:172485459-172485460	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375805004	chr1:172485476-172485477	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs58139654	chr1:172485495-172485496	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549718951	chr1:172485500-172485501	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536327927	chr1:172485544-172485545	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554740817	chr1:172485551-172485552	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569846516	chr1:172485576-172485577	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142235895	chr1:172485585-172485586	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558813951	chr1:172485636-172485637	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577205740	chr1:172485645-172485646	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147849875	chr1:172485720-172485721	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111944494	chr1:172485752-172485753	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs5014539	chr1:172485753-172485754	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs376826904	chr1:172485757-172485758	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541925211	chr1:172485795-172485796	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563196730	chr1:172485836-172485837	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570963887	chr1:172485854-172485855	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145194039	chr1:172485867-172485868	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376507053	chr1:172485873-172485874	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147590171	chr1:172485882-172485883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565280368	chr1:172485919-172485920	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532653920	chr1:172485927-172485928	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142038030	chr1:172485967-172485968	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74124220	chr1:172485969-172485970	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184542554	chr1:172485981-172485982	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548669750	chr1:172486028-172486029	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570004936	chr1:172486033-172486034	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527585752	chr1:172486054-172486055	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537295742	chr1:172486065-172486066	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189253491	chr1:172486080-172486081	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs16844666	chr1:172486098-172486099	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534893739	chr1:172486110-172486111	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181228066	chr1:172486172-172486173	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574495247	chr1:172486177-172486178	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541413793	chr1:172486194-172486195	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557066243	chr1:172486196-172486197	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575240474	chr1:172486222-172486223	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185834466	chr1:172486286-172486287	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367900564	chr1:172486295-172486296	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565117712	chr1:172486333-172486334	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550294629	chr1:172486436-172486437	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172480800-172487800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:172484200-172485200	Enhancers	K562	blood
3	chr1:172484400-172487600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:172484600-172487600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:172484600-172487800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:172484800-172485400	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:172484800-172487800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:172485000-172485200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:172485000-172485400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:172485200-172486800	Weak transcription	K562	blood
11	chr1:172485200-172488400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:172485400-172486200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:172485400-172486600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:172486200-172487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:172486200-172488400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:172486600-172487800	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:172486800-172487400	Enhancers	K562	blood
18	chr1:172487000-172487600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:172487400-172492200	Weak transcription	K562	blood
20	chr1:172487800-172499000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:172488400-172489000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:172489000-172490600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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