Variant report

Variant	esv3407440
Chromosome Location	chr1:112646454-112649002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112646202..112647038-chr15:76625778..76626625,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181199588	chr1:112646456-112646457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533244840	chr1:112646459-112646460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566839016	chr1:112646463-112646464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562777989	chr1:112646464-112646465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs457342	chr1:112646468-112646469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548447350	chr1:112646470-112646471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548428613	chr1:112646480-112646481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537194061	chr1:112646516-112646517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370507792	chr1:112646528-112646529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548164693	chr1:112646549-112646550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114771797	chr1:112646557-112646558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185889098	chr1:112646587-112646588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570699867	chr1:112646595-112646596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116669923	chr1:112646605-112646606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539189427	chr1:112646609-112646610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs465755	chr1:112646675-112646676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374299054	chr1:112646728-112646729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535456480	chr1:112646733-112646734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552821124	chr1:112646739-112646740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12126593	chr1:112646788-112646789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs650946	chr1:112646837-112646838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190353734	chr1:112646890-112646891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183961064	chr1:112646937-112646938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557711118	chr1:112646960-112646961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577252673	chr1:112646973-112646974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546009215	chr1:112647008-112647009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199745414	chr1:112647053-112647054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187578868	chr1:112647061-112647062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376792437	chr1:112647073-112647074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369459994	chr1:112647079-112647080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377367069	chr1:112647100-112647101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371018621	chr1:112647130-112647131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191907917	chr1:112647155-112647156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183007607	chr1:112647157-112647158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374590446	chr1:112647164-112647165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377707632	chr1:112647168-112647169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376135822	chr1:112647173-112647174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370448875	chr1:112647182-112647183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374819193	chr1:112647186-112647187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376879140	chr1:112647187-112647188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370512430	chr1:112647188-112647189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377335229	chr1:112647192-112647193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374616641	chr1:112647205-112647206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370442712	chr1:112647208-112647209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375259571	chr1:112647216-112647217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368470471	chr1:112647218-112647219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371865119	chr1:112647231-112647232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531573563	chr1:112647233-112647234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186780060	chr1:112647234-112647235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374636191	chr1:112647239-112647240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112642800-112650800	Weak transcription	Stomach Mucosa	stomach

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