Variant report

Variant	esv3442745
Chromosome Location	chr1:186428079-186430077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534888364	chr1:186428104-186428105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553145622	chr1:186428222-186428223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560113838	chr1:186428228-186428229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578226956	chr1:186428234-186428235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186177926	chr1:186428236-186428237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557355636	chr1:186428243-186428244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190503341	chr1:186428244-186428245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543009227	chr1:186428251-186428252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376229373	chr1:186428259-186428260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573328501	chr1:186428290-186428291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530037027	chr1:186428301-186428302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548602686	chr1:186428312-186428313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540480504	chr1:186428335-186428336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1929093	chr1:186428345-186428346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564914751	chr1:186428353-186428354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34218705	chr1:186428486-186428487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532465046	chr1:186428522-186428523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544200000	chr1:186428540-186428541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138181185	chr1:186428575-186428576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183366533	chr1:186428653-186428654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531039699	chr1:186428661-186428662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188380432	chr1:186428686-186428687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79358949	chr1:186428770-186428771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12133953	chr1:186428773-186428774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527373927	chr1:186428783-186428784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546827250	chr1:186428784-186428785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571730083	chr1:186428795-186428796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539196540	chr1:186428828-186428829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191174679	chr1:186428861-186428862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144056306	chr1:186428883-186428884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368230062	chr1:186428884-186428885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373363054	chr1:186428885-186428886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71516962	chr1:186428886-186428887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201171691	chr1:186428892-186428893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56927589	chr1:186428908-186428909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61517283	chr1:186428913-186428914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183018939	chr1:186428934-186428935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536651785	chr1:186428959-186428960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5779292	chr1:186429054-186429055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554999724	chr1:186429083-186429084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186512549	chr1:186429091-186429092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540708508	chr1:186429111-186429112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549540383	chr1:186429167-186429168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35332776	chr1:186429269-186429270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370875722	chr1:186429287-186429288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576979532	chr1:186429294-186429295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149593460	chr1:186429388-186429389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562641991	chr1:186429445-186429446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118040845	chr1:186429491-186429492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571126806	chr1:186429514-186429515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186404200-186431400	Weak transcription	GM12878-XiMat	blood
2	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain

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