Variant report

Variant	esv3336226
Chromosome Location	chr1:74792314-74794412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74622571	chr1:74792393-74792394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556872654	chr1:74792437-74792438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576895645	chr1:74792445-74792446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373832056	chr1:74792528-74792529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542199589	chr1:74792536-74792537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562173256	chr1:74792573-74792574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561391468	chr1:74792597-74792598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573257977	chr1:74792608-74792609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540590305	chr1:74792625-74792626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534280482	chr1:74792698-74792699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182332781	chr1:74792711-74792712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551273304	chr1:74792730-74792731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571032551	chr1:74792764-74792765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144770709	chr1:74792808-74792809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187393348	chr1:74792853-74792854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548508746	chr1:74792897-74792898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567307811	chr1:74792910-74792911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114320362	chr1:74792986-74792987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12140897	chr1:74793045-74793046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570898121	chr1:74793049-74793050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538277631	chr1:74793054-74793055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374407942	chr1:74793138-74793139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12118700	chr1:74793150-74793151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575182930	chr1:74793185-74793186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536398478	chr1:74793199-74793200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1333030	chr1:74793206-74793207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554486308	chr1:74793215-74793216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113666086	chr1:74793309-74793310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552912	chr1:74793320-74793321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528602728	chr1:74793328-74793329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547077067	chr1:74793329-74793330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3057160	chr1:74793345-74793346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5775236	chr1:74793347-74793348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397837322	chr1:74793351-74793352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35334924	chr1:74793352-74793353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540356178	chr1:74793387-74793388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565406150	chr1:74793455-74793456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577306137	chr1:74793500-74793501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544659076	chr1:74793506-74793507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563136211	chr1:74793517-74793518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530421026	chr1:74793656-74793657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548735700	chr1:74793664-74793665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560539662	chr1:74793691-74793692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199832632	chr1:74793782-74793783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191843573	chr1:74793812-74793813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6424578	chr1:74793813-74793814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1333031	chr1:74793878-74793879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs76090259	chr1:74793970-74793971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17095144	chr1:74793998-74793999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568780451	chr1:74794027-74794028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74785600-74808800	Weak transcription	Left Ventricle	heart
2	chr1:74790400-74814200	Weak transcription	Aorta	Aorta
3	chr1:74790600-74792800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:74791200-74807400	Weak transcription	Fetal Heart	heart
5	chr1:74794200-74794800	Enhancers	Pancreatic Islets	Pancreatic Islet

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