Variant report

Variant	esv3375449
Chromosome Location	chr1:166754628-166758990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564886	chr1:166754642-166754643	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368790970	chr1:166754655-166754656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566718989	chr1:166754698-166754699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534161137	chr1:166754703-166754704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192945304	chr1:166754724-166754725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541110468	chr1:166754738-166754739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559417482	chr1:166754739-166754740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111410515	chr1:166754754-166754755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556694138	chr1:166754771-166754772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542163	chr1:166754786-166754787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373432817	chr1:166754789-166754790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112954424	chr1:166754816-166754817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141200496	chr1:166754836-166754837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185196360	chr1:166754842-166754843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563205451	chr1:166754873-166754874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187290650	chr1:166755058-166755059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1335944	chr1:166755143-166755144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145067973	chr1:166755164-166755165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115938016	chr1:166755194-166755195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78455327	chr1:166755198-166755199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529220609	chr1:166755204-166755205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1543306	chr1:166755206-166755207	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375879028	chr1:166755223-166755224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138850620	chr1:166755247-166755248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1543307	chr1:166755264-166755265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551575150	chr1:166755267-166755268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191738968	chr1:166755279-166755280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534101450	chr1:166755292-166755293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1543308	chr1:166755324-166755325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549185489	chr1:166755339-166755340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576234808	chr1:166755360-166755361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567580663	chr1:166755392-166755393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs858789	chr1:166755406-166755407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs496096	chr1:166755452-166755453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188290572	chr1:166755476-166755477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149301203	chr1:166755478-166755479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34107909	chr1:166755736-166755737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557865238	chr1:166755744-166755745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561657913	chr1:166755754-166755755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180745891	chr1:166755778-166755779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148061662	chr1:166755780-166755781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530002225	chr1:166755783-166755784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185649350	chr1:166755874-166755875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538783014	chr1:166755888-166755889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573831518	chr1:166755890-166755891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546568011	chr1:166755904-166755905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190559523	chr1:166755934-166755935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533155098	chr1:166755942-166755943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373415936	chr1:166755972-166755973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369696911	chr1:166756021-166756022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166753600-166755400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr1:166754400-166756400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:166755200-166755400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:166758400-166758800	Enhancers	HMEC	breast

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