Variant report

Variant	esv3320233
Chromosome Location	chr1:74984401-74985358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537272205	chr1:74984436-74984437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529126349	chr1:74984440-74984441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114661453	chr1:74984441-74984442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567854080	chr1:74984470-74984471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535183986	chr1:74984510-74984511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371941980	chr1:74984528-74984529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374805633	chr1:74984541-74984542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200030502	chr1:74984546-74984547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147780464	chr1:74984555-74984556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141727622	chr1:74984558-74984559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367595807	chr1:74984579-74984580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7535572	chr1:74984583-74984584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562369014	chr1:74984711-74984712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571967104	chr1:74984791-74984792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546044713	chr1:74984814-74984815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545085548	chr1:74984977-74984978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6604868	chr1:74984989-74984990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576301342	chr1:74985029-74985030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560209529	chr1:74985053-74985054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576196073	chr1:74985137-74985138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561875588	chr1:74985172-74985173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527254162	chr1:74985190-74985191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112201400	chr1:74985210-74985211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191291789	chr1:74985244-74985245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199712931	chr1:74985340-74985341	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74978800-74989800	Weak transcription	Right Atrium	heart
2	chr1:74979000-74986400	Weak transcription	Left Ventricle	heart
3	chr1:74979000-74986800	Weak transcription	Fetal Heart	heart
4	chr1:74979600-74987800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:74980000-74987800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:74983600-74987200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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