Variant report

Variant	esv3345794
Chromosome Location	chr1:172662479-172665027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188986549	chr1:172662531-172662532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181046315	chr1:172662558-172662559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564058542	chr1:172662574-172662575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572888080	chr1:172662595-172662596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371717654	chr1:172662635-172662636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185519831	chr1:172662638-172662639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116754347	chr1:172662669-172662670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530278627	chr1:172662675-172662676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143150690	chr1:172662703-172662704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528282593	chr1:172662704-172662705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556192908	chr1:172662709-172662710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59411853	chr1:172662715-172662716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141224416	chr1:172662716-172662717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539578129	chr1:172662729-172662730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146200453	chr1:172662739-172662740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530667332	chr1:172662741-172662742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570903026	chr1:172662745-172662746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137884067	chr1:172662762-172662763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546647816	chr1:172662808-172662809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372287163	chr1:172662888-172662889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535079768	chr1:172662891-172662892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567927427	chr1:172662903-172662904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535243119	chr1:172662960-172662961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557000469	chr1:172663038-172663039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142321450	chr1:172663046-172663047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554972470	chr1:172663171-172663172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375227224	chr1:172663213-172663214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372298379	chr1:172663215-172663216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375959181	chr1:172663227-172663228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374157053	chr1:172663240-172663241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373431206	chr1:172663247-172663248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377585940	chr1:172663252-172663253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368441454	chr1:172663253-172663254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370448411	chr1:172663260-172663261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369072842	chr1:172663269-172663270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556914796	chr1:172663271-172663272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374168431	chr1:172663272-172663273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377609512	chr1:172663279-172663280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371434577	chr1:172663280-172663281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577377119	chr1:172663287-172663288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374547850	chr1:172663294-172663295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370791140	chr1:172663295-172663296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377060085	chr1:172663296-172663297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370131564	chr1:172663298-172663299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374201904	chr1:172663299-172663300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368063883	chr1:172663309-172663310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374075210	chr1:172663310-172663311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371488447	chr1:172663313-172663314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374430145	chr1:172663328-172663329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200244305	chr1:172663353-172663354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172649000-172667000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:172652400-172666800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:172654400-172664000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:172655800-172673800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:172664000-172664200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:172664200-172664600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:172664200-172666200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:172664400-172666800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:172664600-172667000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:172664800-172667000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:172665000-172665800	Enhancers	Primary T helper cells PMA-I stimulated	--

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