Variant report

Variant	nsv1012972
Chromosome Location	chr1:166166695-166206473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166166533..166169464-chr1:166169502..166171582,2	K562	blood:
2	chr1:166162627..166165550-chr1:166172239..166174984,2	K562	blood:
3	chr1:166166533..166169464-chr1:166169502..166171582,2	K562	blood:

Extended variants
information (count: 543 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6658513	chr1:166166695-166166696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540047677	chr1:166166725-166166726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377748870	chr1:166166729-166166730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570151308	chr1:166166744-166166745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535997050	chr1:166166749-166166750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138023135	chr1:166166761-166166762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572410102	chr1:166166874-166166875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16856709	chr1:166166914-166166915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149391545	chr1:166166932-166166933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574330732	chr1:166166960-166166961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577886609	chr1:166167003-166167004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543195727	chr1:166167006-166167007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370652071	chr1:166167015-166167016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573398520	chr1:166167195-166167196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539782021	chr1:166167221-166167222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542317917	chr1:166167228-166167229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559047036	chr1:166167262-166167263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528104739	chr1:166167307-166167308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547745633	chr1:166167320-166167321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61835144	chr1:166167493-166167494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190925532	chr1:166167507-166167508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144794433	chr1:166167544-166167545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116330139	chr1:166167563-166167564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540713442	chr1:166167566-166167567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535907137	chr1:166167570-166167571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183198278	chr1:166167580-166167581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576540575	chr1:166167587-166167588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114784298	chr1:166167599-166167600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534993646	chr1:166167606-166167607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557899093	chr1:166167627-166167628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577859078	chr1:166167678-166167679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148162748	chr1:166167709-166167710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115688341	chr1:166167723-166167724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142022583	chr1:166167736-166167737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187522925	chr1:166167809-166167810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559422234	chr1:166167850-166167851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548038619	chr1:166167890-166167891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75984288	chr1:166167938-166167939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140043382	chr1:166167956-166167957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190401273	chr1:166167996-166167997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550502562	chr1:166168007-166168008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563834928	chr1:166168010-166168011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529531229	chr1:166168043-166168044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549337317	chr1:166168060-166168061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566147988	chr1:166168071-166168072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143598798	chr1:166168178-166168179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146317464	chr1:166168212-166168213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571552682	chr1:166168247-166168248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548170818	chr1:166168271-166168272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536906906	chr1:166168308-166168309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
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
Breast cancer	21509527	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166166400-166167200	Enhancers	Psoas Muscle	Psoas
2	chr1:166166400-166167400	Enhancers	Stomach Mucosa	stomach
3	chr1:166166400-166167800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:166166600-166167000	Enhancers	HMEC	breast
5	chr1:166166600-166167400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:166167000-166167400	Enhancers	Fetal Intestine Large	intestine
7	chr1:166167000-166172000	Weak transcription	HMEC	breast
8	chr1:166167400-166172400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:166167800-166168000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:166171800-166172800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:166172000-166172600	Enhancers	HMEC	breast
12	chr1:166172000-166172800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:166172000-166173000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:166172400-166172800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:166172800-166175600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:166173800-166174000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:166175600-166177400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:166176200-166177000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:166179600-166180000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:166203000-166203600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:166203200-166203400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:166203200-166203400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:166203200-166203600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:166203200-166203800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:166203200-166203800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:166204400-166204800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:166204400-166204800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:166204400-166205600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:166204800-166207000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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