Variant report

Variant	esv3373063
Chromosome Location	chr1:165552010-165552470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140059696	chr1:165552019-165552020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561698719	chr1:165552025-165552026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150028404	chr1:165552045-165552046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190019451	chr1:165552050-165552051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570449747	chr1:165552051-165552052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200912073	chr1:165552058-165552059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62648295	chr1:165552073-165552074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549561519	chr1:165552081-165552082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569639274	chr1:165552083-165552084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535165526	chr1:165552087-165552088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181652727	chr1:165552093-165552094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367816776	chr1:165552094-165552095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199889215	chr1:165552105-165552106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534427179	chr1:165552109-165552110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116969794	chr1:165552111-165552112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62648296	chr1:165552112-165552113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546521857	chr1:165552113-165552114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373060950	chr1:165552121-165552122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186456635	chr1:165552124-165552125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536699237	chr1:165552129-165552130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111214322	chr1:165552139-165552140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375370507	chr1:165552152-165552153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367943499	chr1:165552153-165552154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201510513	chr1:165552154-165552155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111214276	chr1:165552155-165552156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62648297	chr1:165552159-165552160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111214368	chr1:165552165-165552166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369105489	chr1:165552186-165552187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62648298	chr1:165552187-165552188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62648299	chr1:165552189-165552190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200758598	chr1:165552191-165552192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62648300	chr1:165552195-165552196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62648301	chr1:165552202-165552203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201577230	chr1:165552223-165552224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532178818	chr1:165552231-165552232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200105369	chr1:165552251-165552252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201085468	chr1:165552253-165552254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201710705	chr1:165552287-165552288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201021020	chr1:165552318-165552319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199897953	chr1:165552319-165552320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527468143	chr1:165552329-165552330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540870717	chr1:165552330-165552331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564037371	chr1:165552334-165552335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372110130	chr1:165552345-165552346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533015187	chr1:165552349-165552350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200400507	chr1:165552350-165552351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201258853	chr1:165552351-165552352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569519730	chr1:165552363-165552364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202141216	chr1:165552374-165552375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142457774	chr1:165552406-165552407	Weak transcription	n/a	n/a	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
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
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165547400-165566800	Weak transcription	Psoas Muscle	Psoas

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