Variant report

Variant	esv1627506
Chromosome Location	chr4:1138791-1139934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 61 )

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	rs564906360	chr4:1138792-1138793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56346147	chr4:1138793-1138794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543960151	chr4:1138813-1138814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562579049	chr4:1138855-1138856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529668368	chr4:1138888-1138889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541870304	chr4:1138918-1138919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75190706	chr4:1138922-1138923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528765753	chr4:1138925-1138926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201417834	chr4:1138937-1138938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547317140	chr4:1138985-1138986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571738437	chr4:1138989-1138990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371767809	chr4:1139052-1139053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550612299	chr4:1139057-1139058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192584113	chr4:1139076-1139077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569029336	chr4:1139079-1139080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536208305	chr4:1139085-1139086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71640381	chr4:1139105-1139106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74208132	chr4:1139115-1139116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199778118	chr4:1139120-1139121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184212124	chr4:1139122-1139123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140937756	chr4:1139124-1139125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558855537	chr4:1139146-1139147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576924448	chr4:1139164-1139165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544401226	chr4:1139173-1139174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563318251	chr4:1139178-1139179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556267419	chr4:1139190-1139191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574602034	chr4:1139202-1139203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575133167	chr4:1139225-1139226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369387617	chr4:1139232-1139233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188502125	chr4:1139235-1139236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113007506	chr4:1139251-1139252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113749443	chr4:1139254-1139255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540529068	chr4:1139270-1139271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113860683	chr4:1139296-1139297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111658018	chr4:1139300-1139301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62293563	chr4:1139346-1139347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61587783	chr4:1139390-1139391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376882616	chr4:1139436-1139437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113686390	chr4:1139446-1139447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58757700	chr4:1139481-1139482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71604364	chr4:1139516-1139517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551610877	chr4:1139526-1139527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76134803	chr4:1139571-1139572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74186971	chr4:1139595-1139596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374158743	chr4:1139611-1139612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565573925	chr4:1139612-1139613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532568519	chr4:1139630-1139631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200524419	chr4:1139640-1139641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377497163	chr4:1139661-1139662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71604365	chr4:1139678-1139679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1124800-1149600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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