Variant report

Variant	esv3344397
Chromosome Location	chr1:91742364-91744562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:91631181..91632395-chr1:91744047..91745077,4	MCF-7	breast:
2	chr1:91630943..91632337-chr1:91743605..91745000,11	K562	blood:
3	chr1:91631262..91632370-chr1:91744052..91745105,10	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141161527	chr1:91742420-91742421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542021499	chr1:91742424-91742425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184353702	chr1:91742441-91742442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530814818	chr1:91742486-91742487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369796639	chr1:91742517-91742518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74938180	chr1:91742541-91742542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150703340	chr1:91742558-91742559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12743221	chr1:91742639-91742640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369198824	chr1:91742655-91742656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188119021	chr1:91742674-91742675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541908695	chr1:91742691-91742692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150742492	chr1:91742765-91742766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200596758	chr1:91742768-91742769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79532654	chr1:91742780-91742781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74788239	chr1:91742788-91742789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533144997	chr1:91742870-91742871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566149955	chr1:91742888-91742889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371146757	chr1:91742930-91742931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76270135	chr1:91742948-91742949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72726270	chr1:91742962-91742963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570055327	chr1:91743057-91743058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67268923	chr1:91743064-91743065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398103011	chr1:91743065-91743066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567691179	chr1:91743066-91743067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372874480	chr1:91743084-91743085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201917596	chr1:91743092-91743093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181354068	chr1:91743096-91743097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28620631	chr1:91743102-91743103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28538315	chr1:91743103-91743104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369236075	chr1:91743118-91743119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373278566	chr1:91743123-91743124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200475133	chr1:91743124-91743125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368937383	chr1:91743140-91743141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367924577	chr1:91743141-91743142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369330259	chr1:91743143-91743144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67810748	chr1:91743147-91743148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561274056	chr1:91743148-91743149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376285535	chr1:91743150-91743151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28474816	chr1:91743157-91743158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66680915	chr1:91743158-91743159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377661029	chr1:91743160-91743161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370855613	chr1:91743170-91743171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10922992	chr1:91743222-91743223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1098467	chr1:91743223-91743224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56695899	chr1:91743232-91743233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57678992	chr1:91743235-91743236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60728992	chr1:91743259-91743260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528538390	chr1:91743260-91743261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57522686	chr1:91743276-91743277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12143715	chr1:91743294-91743295	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91717000-91743000	Weak transcription	Fetal Lung	lung
2	chr1:91719600-91748400	Weak transcription	Ovary	ovary
3	chr1:91719800-91748000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:91732400-91744200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:91738200-91748400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:91739800-91743400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:91744000-91744400	Enhancers	K562	blood
8	chr1:91744400-91748400	Weak transcription	K562	blood

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