Variant report

Variant	esv3361198
Chromosome Location	chr1:58251614-58254912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536710107	chr1:58253824-58253825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546771536	chr1:58253890-58253891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181242168	chr1:58253896-58253897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145577831	chr1:58253910-58253911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186705809	chr1:58253966-58253967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190411057	chr1:58253970-58253971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575573448	chr1:58253981-58253982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538158207	chr1:58254011-58254012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554499457	chr1:58254051-58254052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574355522	chr1:58254075-58254076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540262911	chr1:58254205-58254206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372080846	chr1:58254206-58254207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559988370	chr1:58254212-58254213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576557045	chr1:58254222-58254223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs927613	chr1:58254245-58254246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565159056	chr1:58254258-58254259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80201196	chr1:58254263-58254264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1886141	chr1:58254286-58254287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs927614	chr1:58254317-58254318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559694473	chr1:58254328-58254329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182787990	chr1:58254340-58254341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373831457	chr1:58254359-58254360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566839506	chr1:58254440-58254441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539153964	chr1:58254478-58254479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552370424	chr1:58254555-58254556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577562218	chr1:58254557-58254558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1886142	chr1:58254631-58254632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554555639	chr1:58254685-58254686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574722463	chr1:58254739-58254740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563937456	chr1:58254756-58254757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12140045	chr1:58254860-58254861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs79594518	chr1:58254869-58254870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576495601	chr1:58254889-58254890	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58253800-58255000	Enhancers	Dnd41	blood
2	chr1:58254000-58254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:58254000-58254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:58254000-58254600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:58254000-58254800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:58254200-58254600	Enhancers	Fetal Lung	lung

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