Variant report

Variant	esv3403940
Chromosome Location	chr4:45213495-45214943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572314178	chr4:45213537-45213538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545769677	chr4:45213543-45213544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16858167	chr4:45213605-45213606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531183979	chr4:45213606-45213607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543145735	chr4:45213625-45213626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140297745	chr4:45213642-45213643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528937679	chr4:45213643-45213644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190076200	chr4:45213644-45213645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547982374	chr4:45213659-45213660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142485221	chr4:45213696-45213697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116256019	chr4:45213731-45213732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541818006	chr4:45213742-45213743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150930133	chr4:45213778-45213779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181151012	chr4:45213784-45213785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140744868	chr4:45213907-45213908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185611459	chr4:45213916-45213917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567752083	chr4:45213947-45213948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534768374	chr4:45213949-45213950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540830054	chr4:45213954-45213955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188072593	chr4:45214052-45214053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539374754	chr4:45214066-45214067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12645552	chr4:45214143-45214144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12641819	chr4:45214147-45214148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564944401	chr4:45214161-45214162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376035708	chr4:45214162-45214163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181022353	chr4:45214163-45214164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12641822	chr4:45214175-45214176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373642469	chr4:45214183-45214184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367862887	chr4:45214187-45214188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34127135	chr4:45214188-45214189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552268936	chr4:45214192-45214193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201482873	chr4:45214193-45214194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199580615	chr4:45214197-45214198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3104846	chr4:45214202-45214203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547228146	chr4:45214217-45214218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200945279	chr4:45214252-45214253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147286303	chr4:45214253-45214254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12644927	chr4:45214255-45214256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192135631	chr4:45214256-45214257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10010267	chr4:45214267-45214268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201121674	chr4:45214268-45214269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34915810	chr4:45214269-45214270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111349481	chr4:45214270-45214271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561310764	chr4:45214271-45214272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201670568	chr4:45214280-45214281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573723256	chr4:45214286-45214287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530469857	chr4:45214289-45214290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371699161	chr4:45214331-45214332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548589409	chr4:45214343-45214344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141301740	chr4:45214379-45214380	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
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45202000-45214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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