Variant report

Variant	esv3452337
Chromosome Location	chr1:74721864-74723646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563429079	chr1:74721884-74721885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142408531	chr1:74721920-74721921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147576096	chr1:74721948-74721949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545020017	chr1:74721968-74721969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543197784	chr1:74721987-74721988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397980523	chr1:74721997-74721998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560980946	chr1:74722011-74722012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528407527	chr1:74722143-74722144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528814617	chr1:74722152-74722153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185457403	chr1:74722187-74722188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571465013	chr1:74722230-74722231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532377106	chr1:74722249-74722250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550781388	chr1:74722262-74722263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140425280	chr1:74722276-74722277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536205135	chr1:74722313-74722314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190004261	chr1:74722346-74722347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527478162	chr1:74722352-74722353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542356876	chr1:74722564-74722565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2344187	chr1:74722569-74722570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531261734	chr1:74722570-74722571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534216771	chr1:74722590-74722591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144167942	chr1:74722632-74722633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181309471	chr1:74722674-74722675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544803169	chr1:74722703-74722704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185893643	chr1:74722721-74722722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571122225	chr1:74722959-74722960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575304462	chr1:74723031-74723032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542220877	chr1:74723062-74723063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147780587	chr1:74723078-74723079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574692	chr1:74723093-74723094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12091478	chr1:74723114-74723115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373759645	chr1:74723183-74723184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551766909	chr1:74723207-74723208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181822499	chr1:74723242-74723243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77167689	chr1:74723312-74723313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201261619	chr1:74723343-74723344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71588828	chr1:74723345-74723346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374128396	chr1:74723346-74723347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56274610	chr1:74723347-74723348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372037227	chr1:74723348-74723349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs66853287	chr1:74723370-74723371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550753874	chr1:74723416-74723417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113850289	chr1:74723431-74723432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370874532	chr1:74723438-74723439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373618530	chr1:74723445-74723446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186547168	chr1:74723475-74723476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140379966	chr1:74723500-74723501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12060877	chr1:74723508-74723509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555949098	chr1:74723512-74723513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112787449	chr1:74723513-74723514	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74671400-74751800	Weak transcription	Ovary	ovary
2	chr1:74675800-74724000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:74715200-74726400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:74717000-74751800	Weak transcription	Aorta	Aorta
5	chr1:74718600-74727400	Weak transcription	Fetal Heart	heart
6	chr1:74719600-74723600	Weak transcription	Left Ventricle	heart
7	chr1:74719600-74753800	Weak transcription	Right Ventricle	heart
8	chr1:74723600-74724200	Strong transcription	Left Ventricle	heart

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