Variant report

Variant	esv2007920
Chromosome Location	chr4:44971814-44972351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140640823	chr4:44971901-44971902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550311293	chr4:44971925-44971926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548058358	chr4:44971928-44971929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566685477	chr4:44971971-44971972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533770537	chr4:44971973-44971974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75486747	chr4:44971976-44971977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78621433	chr4:44971977-44971978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528701660	chr4:44971984-44971985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373043196	chr4:44971996-44971997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77929638	chr4:44971997-44971998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10938376	chr4:44972002-44972003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182723060	chr4:44972020-44972021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12643357	chr4:44972022-44972023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537902412	chr4:44972052-44972053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556312182	chr4:44972065-44972066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568644426	chr4:44972067-44972068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199679210	chr4:44972081-44972082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34122469	chr4:44972086-44972087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60827126	chr4:44972087-44972088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3076805	chr4:44972110-44972111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71609452	chr4:44972115-44972116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571851149	chr4:44972133-44972134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67397764	chr4:44972134-44972135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58502668	chr4:44972136-44972137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59122581	chr4:44972156-44972157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145635843	chr4:44972167-44972168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371584193	chr4:44972168-44972169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546177493	chr4:44972194-44972195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186024181	chr4:44972195-44972196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138462632	chr4:44972210-44972211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543483013	chr4:44972220-44972221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190091729	chr4:44972248-44972249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529820622	chr4:44972280-44972281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58034832	chr4:44972292-44972293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548121648	chr4:44972306-44972307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533217700	chr4:44972336-44972337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372142818	chr4:44972337-44972338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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