Variant report

Variant	esv3338727
Chromosome Location	chr1:47589165-47593863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 220 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368921810	chr1:47589177-47589178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527693172	chr1:47589186-47589187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186100174	chr1:47589190-47589191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376361395	chr1:47589229-47589230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191081047	chr1:47589240-47589241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150897388	chr1:47589269-47589270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568687533	chr1:47589274-47589275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12736601	chr1:47589284-47589285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12723346	chr1:47589285-47589286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535629379	chr1:47589369-47589370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554716822	chr1:47589374-47589375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572941904	chr1:47589390-47589391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139777151	chr1:47589461-47589462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371378345	chr1:47589463-47589464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370078828	chr1:47589483-47589484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182563141	chr1:47589520-47589521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576748580	chr1:47589556-47589557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544541923	chr1:47589587-47589588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562593613	chr1:47589601-47589602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574583734	chr1:47589619-47589620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185707367	chr1:47589637-47589638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560233747	chr1:47589645-47589646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527805878	chr1:47589657-47589658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111658950	chr1:47589663-47589664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528371555	chr1:47589717-47589718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571403224	chr1:47589734-47589735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368288339	chr1:47589760-47589761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564542166	chr1:47589772-47589773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531608567	chr1:47589776-47589777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550455735	chr1:47589798-47589799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72637979	chr1:47589815-47589816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536064428	chr1:47589823-47589824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532031875	chr1:47589827-47589828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547983453	chr1:47589828-47589829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149681283	chr1:47589832-47589833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533909625	chr1:47589883-47589884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190469294	chr1:47589941-47589942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564753363	chr1:47589954-47589955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576776698	chr1:47589972-47589973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537402139	chr1:47589989-47589990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183173940	chr1:47589994-47589995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574614931	chr1:47590002-47590003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145519504	chr1:47590046-47590047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148868793	chr1:47590083-47590084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369813851	chr1:47590095-47590096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545942661	chr1:47590115-47590116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187876765	chr1:47590135-47590136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143564649	chr1:47590143-47590144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549874861	chr1:47590160-47590161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562428015	chr1:47590193-47590194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	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
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47587000-47595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:47593200-47597000	Enhancers	Liver	Liver

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