Variant report

Variant	esv3350671
Chromosome Location	chr1:189986979-189989077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564684257	chr1:189986981-189986982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185420349	chr1:189986991-189986992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550415688	chr1:189987007-189987008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563735480	chr1:189987023-189987024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529412418	chr1:189987027-189987028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28566521	chr1:189987029-189987030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565981055	chr1:189987045-189987046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534079443	chr1:189987053-189987054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573852429	chr1:189987061-189987062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547404950	chr1:189987115-189987116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570433575	chr1:189987139-189987140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142599842	chr1:189987152-189987153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151010480	chr1:189987188-189987189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550798864	chr1:189987213-189987214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537767129	chr1:189987248-189987249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535240482	chr1:189987289-189987290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61819007	chr1:189987293-189987294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577941651	chr1:189987334-189987335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182022667	chr1:189987354-189987355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570533926	chr1:189987444-189987445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541687906	chr1:189987470-189987471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564592013	chr1:189987506-189987507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184714673	chr1:189987522-189987523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35802719	chr1:189987531-189987532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67071975	chr1:189987541-189987542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187977383	chr1:189987615-189987616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529397393	chr1:189987693-189987694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549245444	chr1:189987705-189987706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559677969	chr1:189987775-189987776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528447359	chr1:189987785-189987786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200771624	chr1:189987799-189987800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139677005	chr1:189987801-189987802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201789419	chr1:189987826-189987827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551766573	chr1:189987866-189987867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570373383	chr1:189987872-189987873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533059475	chr1:189987876-189987877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201538219	chr1:189987878-189987879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560333185	chr1:189987905-189987906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549559161	chr1:189987914-189987915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572058773	chr1:189987948-189987949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542578303	chr1:189987954-189987955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180957480	chr1:189988032-189988033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150099263	chr1:189988036-189988037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75694138	chr1:189988059-189988060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186274107	chr1:189988079-189988080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555196853	chr1:189988104-189988105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565786108	chr1:189988105-189988106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191570892	chr1:189988194-189988195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557793607	chr1:189988287-189988288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181700277	chr1:189988299-189988300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	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
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189986600-189989000	Weak transcription	A549	lung
2	chr1:189988400-189988800	Active TSS	Placenta	Placenta
3	chr1:189988800-189990000	Enhancers	Placenta	Placenta
4	chr1:189989000-189989200	Flanking Active TSS	A549	lung

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