Variant report

Variant	esv3402747
Chromosome Location	chr1:74909889-74912737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562947678	chr1:74909910-74909911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567139965	chr1:74909927-74909928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183432835	chr1:74909932-74909933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141760094	chr1:74909943-74909944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577370831	chr1:74909945-74909946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543720876	chr1:74910003-74910004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188090410	chr1:74910040-74910041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557058169	chr1:74910042-74910043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111295760	chr1:74910061-74910062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374744166	chr1:74910065-74910066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542244585	chr1:74910087-74910088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192733467	chr1:74910110-74910111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182694162	chr1:74910123-74910124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148227929	chr1:74910165-74910166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61776250	chr1:74910283-74910284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186900344	chr1:74910299-74910300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75115685	chr1:74910318-74910319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76623173	chr1:74910319-74910320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112304369	chr1:74910340-74910341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530237159	chr1:74910346-74910347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200944128	chr1:74910350-74910351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371222046	chr1:74910370-74910371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202079433	chr1:74910384-74910385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565209175	chr1:74910402-74910403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534447460	chr1:74910413-74910414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547852400	chr1:74910423-74910424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368204682	chr1:74910443-74910444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs274575	chr1:74910498-74910499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12406693	chr1:74910503-74910504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202232808	chr1:74910514-74910515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570947826	chr1:74910544-74910545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192467311	chr1:74910572-74910573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567831903	chr1:74910581-74910582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574967025	chr1:74910621-74910622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542330589	chr1:74910631-74910632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185075051	chr1:74910643-74910644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189057626	chr1:74910650-74910651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193030930	chr1:74910687-74910688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565216385	chr1:74910689-74910690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185236619	chr1:74910701-74910702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141142409	chr1:74910737-74910738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562685785	chr1:74910747-74910748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530174930	chr1:74910789-74910790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150307981	chr1:74910833-74910834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189737828	chr1:74910835-74910836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533313192	chr1:74910884-74910885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71078192	chr1:74910906-74910907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398074058	chr1:74910914-74910915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12754323	chr1:74910938-74910939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547657691	chr1:74910962-74910963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74899200-74910000	Weak transcription	Left Ventricle	heart
2	chr1:74904600-74917600	Weak transcription	Fetal Heart	heart

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