Variant report

Variant	esv3355156
Chromosome Location	chr1:74911064-74915562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554282253	chr1:74911098-74911099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369184059	chr1:74911099-74911100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572498890	chr1:74911118-74911119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371378901	chr1:74911150-74911151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368371425	chr1:74911173-74911174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372305168	chr1:74911195-74911196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558285945	chr1:74911218-74911219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577041112	chr1:74911227-74911228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369763373	chr1:74911228-74911229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181396282	chr1:74911267-74911268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1092424	chr1:74911304-74911305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113626997	chr1:74911305-74911306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12141023	chr1:74911317-74911318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369454703	chr1:74911326-74911327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36157877	chr1:74911351-74911352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560596561	chr1:74911356-74911357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113888823	chr1:74911387-74911388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1087091	chr1:74911395-74911396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527669411	chr1:74911443-74911444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376377502	chr1:74911444-74911445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552509867	chr1:74911484-74911485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188324070	chr1:74911496-74911497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181871144	chr1:74911504-74911505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141767458	chr1:74911510-74911511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568303499	chr1:74911516-74911517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535695914	chr1:74911537-74911538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547869101	chr1:74911543-74911544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566529046	chr1:74911574-74911575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1087090	chr1:74911580-74911581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186063036	chr1:74911583-74911584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59017319	chr1:74911584-74911585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538134721	chr1:74911589-74911590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556544978	chr1:74911621-74911622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61776251	chr1:74911720-74911721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1087089	chr1:74911764-74911765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542079209	chr1:74911793-74911794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373684234	chr1:74911794-74911795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61558170	chr1:74911797-74911798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572473873	chr1:74911802-74911803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545984311	chr1:74911844-74911845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564462802	chr1:74911845-74911846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377543248	chr1:74911859-74911860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531646621	chr1:74911868-74911869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61776252	chr1:74911901-74911902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543700567	chr1:74911909-74911910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376007497	chr1:74911941-74911942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562070223	chr1:74911975-74911976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529561099	chr1:74911990-74911991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112774586	chr1:74912022-74912023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547559926	chr1:74912071-74912072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

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

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

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