Variant report

Variant	esv3522047
Chromosome Location	chr1:92133464-92135912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2765877	chr1:92133475-92133476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563971925	chr1:92133484-92133485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547496060	chr1:92133492-92133493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533140351	chr1:92133495-92133496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs199849586	chr1:92133537-92133538	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559538472	chr1:92133544-92133545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529703023	chr1:92133545-92133546	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548166777	chr1:92133556-92133557	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569550573	chr1:92133557-92133558	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144865522	chr1:92133593-92133594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12380987	chr1:92133619-92133620	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537320787	chr1:92133625-92133626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552203932	chr1:92133637-92133638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570609970	chr1:92133699-92133700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534536056	chr1:92133700-92133701	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs150866729	chr1:92133701-92133702	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139411274	chr1:92133712-92133713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536350741	chr1:92133725-92133726	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189823460	chr1:92133743-92133744	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576374839	chr1:92133754-92133755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563602244	chr1:92133782-92133783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544080811	chr1:92133794-92133795	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559017592	chr1:92133821-92133822	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577512327	chr1:92133830-92133831	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541688416	chr1:92133904-92133905	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559995761	chr1:92133906-92133907	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529766309	chr1:92133920-92133921	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182270466	chr1:92133948-92133949	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529821148	chr1:92133954-92133955	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567172696	chr1:92133976-92133977	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563356623	chr1:92133977-92133978	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577106941	chr1:92133979-92133980	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144488399	chr1:92133988-92133989	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546209777	chr1:92134137-92134138	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs530457002	chr1:92134172-92134173	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552425545	chr1:92134178-92134179	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150053804	chr1:92134179-92134180	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs72965020	chr1:92134180-92134181	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs546343413	chr1:92134185-92134186	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs567937441	chr1:92134197-92134198	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs113737516	chr1:92134215-92134216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2765878	chr1:92134216-92134217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113514172	chr1:92134251-92134252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61778508	chr1:92134252-92134253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75196133	chr1:92134287-92134288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74617026	chr1:92134288-92134289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113251428	chr1:92134324-92134325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113383675	chr1:92134360-92134361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113663941	chr1:92134396-92134397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111325650	chr1:92134432-92134433	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92132400-92133800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:92132800-92134000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:92133800-92134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:92133800-92134200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr1:92134000-92134200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:92134000-92138000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:92134200-92138600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:92134200-92145200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:92135600-92135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:92135600-92139400	Weak transcription	NHDF-Ad	bronchial
11	chr1:92135800-92136000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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