Variant report

Variant	esv3336987
Chromosome Location	chr1:190365729-190369227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536008016	chr1:190365773-190365774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554277542	chr1:190365787-190365788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147918354	chr1:190365819-190365820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566260192	chr1:190365820-190365821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150476705	chr1:190365843-190365844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3077327	chr1:190365869-190365870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12741636	chr1:190365880-190365881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182141359	chr1:190365922-190365923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543047128	chr1:190365930-190365931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559241972	chr1:190365949-190365950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538712695	chr1:190365959-190365960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200032064	chr1:190366023-190366024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377173141	chr1:190366026-190366027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558310483	chr1:190366041-190366042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541257174	chr1:190366050-190366051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79230173	chr1:190366062-190366063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141881800	chr1:190366095-190366096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200817653	chr1:190366128-190366129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555261259	chr1:190366165-190366166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187101459	chr1:190366190-190366191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530684537	chr1:190366194-190366195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540857048	chr1:190366201-190366202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377049376	chr1:190366226-190366227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554391280	chr1:190366247-190366248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577306649	chr1:190366252-190366253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191560021	chr1:190366320-190366321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562740420	chr1:190366323-190366324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531689128	chr1:190366328-190366329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544113175	chr1:190366330-190366331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560824827	chr1:190366360-190366361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563679403	chr1:190366418-190366419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114147973	chr1:190366426-190366427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1171150	chr1:190366496-190366497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563539335	chr1:190366542-190366543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566651948	chr1:190366602-190366603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532156002	chr1:190366656-190366657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182930617	chr1:190366658-190366659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568769770	chr1:190366694-190366695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552630350	chr1:190366731-190366732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114433310	chr1:190366734-190366735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554583551	chr1:190366758-190366759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568803493	chr1:190366778-190366779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534484740	chr1:190366791-190366792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554450994	chr1:190366807-190366808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577319406	chr1:190366847-190366848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147105490	chr1:190366879-190366880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568981161	chr1:190366901-190366902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570172694	chr1:190366918-190366919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556582879	chr1:190367010-190367011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576384211	chr1:190367043-190367044	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
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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190365000-190380200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:190368200-190369400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:190368600-190369000	Active TSS	GM12878-XiMat	blood

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