Variant report

Variant	esv3344294
Chromosome Location	chr1:190237829-190241627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186738169	chr1:190237846-190237847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191601983	chr1:190237868-190237869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1412967	chr1:190237900-190237901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564619272	chr1:190237920-190237921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533611569	chr1:190237949-190237950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115556393	chr1:190237952-190237953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184923975	chr1:190237990-190237991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188635260	chr1:190238022-190238023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572648446	chr1:190238023-190238024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548974986	chr1:190238059-190238060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565778576	chr1:190238063-190238064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10920676	chr1:190238070-190238071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371801376	chr1:190238088-190238089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577045805	chr1:190238202-190238203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117007494	chr1:190238206-190238207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556055971	chr1:190238224-190238225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369230882	chr1:190238281-190238282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143439555	chr1:190238300-190238301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541903224	chr1:190238301-190238302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561755964	chr1:190238308-190238309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146666513	chr1:190238401-190238402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140219098	chr1:190238465-190238466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12022837	chr1:190238473-190238474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73056787	chr1:190238605-190238606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573276752	chr1:190238611-190238612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568290109	chr1:190238626-190238627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370720320	chr1:190238645-190238646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149661719	chr1:190238752-190238753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550355511	chr1:190238817-190238818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115377582	chr1:190238867-190238868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529438121	chr1:190238869-190238870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192804845	chr1:190238882-190238883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565815415	chr1:190238893-190238894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144465852	chr1:190238924-190238925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116078532	chr1:190238964-190238965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551326152	chr1:190238991-190238992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143505760	chr1:190239008-190239009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563004042	chr1:190239009-190239010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185312857	chr1:190239022-190239023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556331108	chr1:190239048-190239049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576195731	chr1:190239184-190239185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578127329	chr1:190239198-190239199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535157528	chr1:190239229-190239230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377351004	chr1:190239230-190239231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190242172	chr1:190239259-190239260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148002054	chr1:190239278-190239279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35688989	chr1:190239350-190239351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181984038	chr1:190239362-190239363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541051339	chr1:190239460-190239461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557425289	chr1:190239484-190239485	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190228000-190244200	Weak transcription	Fetal Intestine Small	intestine

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