Variant report

Variant	esv14969
Chromosome Location	chr4:60291553-60294222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180755867	chr4:60291563-60291564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371782169	chr4:60291570-60291571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7675020	chr4:60291572-60291573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554994265	chr4:60291576-60291577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114587324	chr4:60291578-60291579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199913455	chr4:60291584-60291585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397689654	chr4:60291591-60291592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186529155	chr4:60291621-60291622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556307919	chr4:60291633-60291634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191917348	chr4:60291643-60291644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540953059	chr4:60291682-60291683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182155589	chr4:60291688-60291689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554179537	chr4:60291700-60291701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572739685	chr4:60291716-60291717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565248117	chr4:60291725-60291726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376816023	chr4:60291750-60291751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532575710	chr4:60291802-60291803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543041507	chr4:60291819-60291820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186745565	chr4:60291848-60291849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544359089	chr4:60291851-60291852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191653294	chr4:60291882-60291883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4452458	chr4:60291884-60291885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4496608	chr4:60291889-60291890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77189661	chr4:60291944-60291945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551610420	chr4:60291947-60291948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566643027	chr4:60291948-60291949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73194558	chr4:60291951-60291952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548556646	chr4:60292011-60292012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547953254	chr4:60292022-60292023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143627599	chr4:60292048-60292049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537521485	chr4:60292077-60292078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs33979056	chr4:60292095-60292096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200434541	chr4:60292096-60292097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77967158	chr4:60292149-60292150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146784705	chr4:60292158-60292159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538849073	chr4:60292171-60292172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574334121	chr4:60292200-60292201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554392936	chr4:60292212-60292213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6818585	chr4:60292217-60292218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10008351	chr4:60292218-60292219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200183270	chr4:60292226-60292227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536979364	chr4:60292249-60292250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140453941	chr4:60292294-60292295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576526467	chr4:60292335-60292336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576777067	chr4:60292362-60292363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543889794	chr4:60292373-60292374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565242896	chr4:60292393-60292394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34425754	chr4:60292394-60292395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577305514	chr4:60292398-60292399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544869794	chr4:60292432-60292433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60286200-60293000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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