Variant report

Variant	esv3374398
Chromosome Location	chr1:190155229-190158827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577906158	chr1:190155276-190155277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543751386	chr1:190155277-190155278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145587181	chr1:190155363-190155364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529445203	chr1:190155378-190155379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542865305	chr1:190155427-190155428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559773273	chr1:190155445-190155446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528607719	chr1:190155452-190155453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375210197	chr1:190155463-190155464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368226071	chr1:190155490-190155491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536996516	chr1:190155561-190155562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181968011	chr1:190155568-190155569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555585995	chr1:190155573-190155574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146508268	chr1:190155592-190155593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550054936	chr1:190155619-190155620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185199940	chr1:190155627-190155628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs815343	chr1:190155633-190155634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115370997	chr1:190155711-190155712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565751972	chr1:190155726-190155727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371576218	chr1:190155771-190155772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534458572	chr1:190155775-190155776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557326222	chr1:190155798-190155799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189950392	chr1:190155814-190155815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6667350	chr1:190155902-190155903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75014188	chr1:190155914-190155915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560901889	chr1:190155922-190155923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574277016	chr1:190155939-190155940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74316996	chr1:190155942-190155943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543186918	chr1:190155983-190155984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16832178	chr1:190156011-190156012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182607408	chr1:190156026-190156027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538949927	chr1:190156064-190156065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558797374	chr1:190156085-190156086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565381839	chr1:190156088-190156089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12084800	chr1:190156099-190156100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs551011110	chr1:190156104-190156105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534307003	chr1:190156141-190156142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563575978	chr1:190156157-190156158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529206879	chr1:190156185-190156186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549151525	chr1:190156222-190156223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554697486	chr1:190156259-190156260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373295573	chr1:190156279-190156280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4845230	chr1:190156305-190156306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144593133	chr1:190156351-190156352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551018971	chr1:190156354-190156355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571022945	chr1:190156359-190156360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372600306	chr1:190156368-190156369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543464025	chr1:190156467-190156468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567359669	chr1:190156500-190156501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556570697	chr1:190156506-190156507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9726459	chr1:190156508-190156509	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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190153400-190165000	Weak transcription	Fetal Heart	heart
2	chr1:190154000-190166600	Weak transcription	Fetal Intestine Small	intestine

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