Variant report

Variant	esv3346826
Chromosome Location	chr1:74757064-74761462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373266241	chr1:74757068-74757069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564770384	chr1:74757096-74757097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532396158	chr1:74757108-74757109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550602644	chr1:74757132-74757133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114956392	chr1:74757139-74757140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536056897	chr1:74757149-74757150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548013648	chr1:74757177-74757178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74093650	chr1:74757189-74757190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138204867	chr1:74757268-74757269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs525658	chr1:74757272-74757273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577173841	chr1:74757280-74757281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12098139	chr1:74757283-74757284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190834100	chr1:74757441-74757442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527509	chr1:74757454-74757455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542420035	chr1:74757462-74757463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560715040	chr1:74757463-74757464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572886231	chr1:74757467-74757468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539961975	chr1:74757504-74757505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564850773	chr1:74757545-74757546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532032105	chr1:74757642-74757643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533614626	chr1:74757681-74757682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540845	chr1:74757689-74757690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373186093	chr1:74757723-74757724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536598946	chr1:74757806-74757807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182319269	chr1:74757817-74757818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547975041	chr1:74757886-74757887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12022350	chr1:74757918-74757919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145986792	chr1:74757990-74757991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113612566	chr1:74758006-74758007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1812772	chr1:74758013-74758014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556926267	chr1:74758054-74758055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537838588	chr1:74758067-74758068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556626073	chr1:74758088-74758089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554910	chr1:74758121-74758122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536195361	chr1:74758123-74758124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190622764	chr1:74758134-74758135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555873	chr1:74758249-74758250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572557050	chr1:74758302-74758303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61776172	chr1:74758331-74758332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183176589	chr1:74758343-74758344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187545366	chr1:74758359-74758360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543781474	chr1:74758369-74758370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562188971	chr1:74758426-74758427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72966112	chr1:74758442-74758443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs67607964	chr1:74758450-74758451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541728674	chr1:74758455-74758456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542867455	chr1:74758472-74758473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561517282	chr1:74758481-74758482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531740224	chr1:74758515-74758516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550244378	chr1:74758516-74758517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74748000-74769200	Weak transcription	Fetal Heart	heart

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