Variant report

Variant	esv2649223
Chromosome Location	chr1:92133936-92135667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182270466	chr1:92133948-92133949	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529821148	chr1:92133954-92133955	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567172696	chr1:92133976-92133977	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563356623	chr1:92133977-92133978	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577106941	chr1:92133979-92133980	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144488399	chr1:92133988-92133989	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546209777	chr1:92134137-92134138	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530457002	chr1:92134172-92134173	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552425545	chr1:92134178-92134179	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs150053804	chr1:92134179-92134180	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs72965020	chr1:92134180-92134181	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546343413	chr1:92134185-92134186	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567937441	chr1:92134197-92134198	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113737516	chr1:92134215-92134216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2765878	chr1:92134216-92134217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113514172	chr1:92134251-92134252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61778508	chr1:92134252-92134253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75196133	chr1:92134287-92134288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74617026	chr1:92134288-92134289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113251428	chr1:92134324-92134325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113383675	chr1:92134360-92134361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113663941	chr1:92134396-92134397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111325650	chr1:92134432-92134433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369935443	chr1:92134467-92134468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373153341	chr1:92134468-92134469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377113030	chr1:92134575-92134576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12723217	chr1:92134647-92134648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12723337	chr1:92134683-92134684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554800216	chr1:92134688-92134689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28875495	chr1:92134719-92134720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111666644	chr1:92134720-92134721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28750816	chr1:92134755-92134756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113813440	chr1:92134756-92134757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28888104	chr1:92134791-92134792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111501902	chr1:92134792-92134793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370935052	chr1:92134827-92134828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9440183	chr1:92134828-92134829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12121575	chr1:92134863-92134864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113810500	chr1:92134864-92134865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113343605	chr1:92134882-92134883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111751126	chr1:92134883-92134884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2810902	chr1:92134899-92134900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537099273	chr1:92134905-92134906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148022308	chr1:92134935-92134936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113904131	chr1:92134936-92134937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186500158	chr1:92134941-92134942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192713367	chr1:92134999-92135000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575098776	chr1:92135024-92135025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576486394	chr1:92135029-92135030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563266157	chr1:92135070-92135071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92132800-92134000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:92133800-92134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:92133800-92134200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:92134000-92134200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:92134000-92138000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:92134200-92138600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:92134200-92145200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:92135600-92135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:92135600-92139400	Weak transcription	NHDF-Ad	bronchial

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