Variant report

Variant	esv2553540
Chromosome Location	chr1:165888976-165890839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9787031	chr1:165889023-165889024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531737641	chr1:165889032-165889033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs504436	chr1:165889056-165889057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568467673	chr1:165889086-165889087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534250800	chr1:165889098-165889099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553703856	chr1:165889127-165889128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570276171	chr1:165889145-165889146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs475558	chr1:165889160-165889161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs556017930	chr1:165889173-165889174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs474766	chr1:165889201-165889202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541470928	chr1:165889202-165889203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373213464	chr1:165889208-165889209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12057550	chr1:165889217-165889218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572069130	chr1:165889268-165889269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142206188	chr1:165889283-165889284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186875020	chr1:165889332-165889333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12401653	chr1:165889370-165889371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191468832	chr1:165889402-165889403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76583108	chr1:165889438-165889439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75287495	chr1:165889439-165889440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79786573	chr1:165889440-165889441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370018982	chr1:165889592-165889593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151224303	chr1:165889593-165889594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574243543	chr1:165889618-165889619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548292944	chr1:165889653-165889654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139026244	chr1:165889658-165889659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116981029	chr1:165889675-165889676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149890769	chr1:165889730-165889731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147582798	chr1:165889762-165889763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376095104	chr1:165889780-165889781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544636467	chr1:165889797-165889798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142098535	chr1:165889811-165889812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555899668	chr1:165889812-165889813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145884763	chr1:165889862-165889863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535713627	chr1:165889884-165889885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555084648	chr1:165889948-165889949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571994745	chr1:165889993-165889994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57830166	chr1:165890000-165890001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557885949	chr1:165890027-165890028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577557033	chr1:165890066-165890067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182580093	chr1:165890068-165890069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200052699	chr1:165890083-165890084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76806876	chr1:165890095-165890096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28820335	chr1:165890096-165890097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145218914	chr1:165890099-165890100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28848225	chr1:165890103-165890104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573276979	chr1:165890105-165890106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563021921	chr1:165890106-165890107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75091145	chr1:165890113-165890114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367592009	chr1:165890114-165890115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165858600-165902400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165879400-165894600	Weak transcription	Aorta	Aorta
3	chr1:165880600-165889000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:165880600-165894200	Weak transcription	Right Atrium	heart
5	chr1:165880800-165902600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:165882200-165889200	Weak transcription	Fetal Brain Female	brain
7	chr1:165882200-165889400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:165882200-165894200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:165883600-165896400	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links