Variant report

Variant	esv3327213
Chromosome Location	chr4:7615706-7616573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539541255	chr4:7615798-7615799	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs576196476	chr4:7615799-7615800	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs67667723	chr4:7615804-7615805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573110717	chr4:7615818-7615819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57158898	chr4:7615857-7615858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555755878	chr4:7615865-7615866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369320034	chr4:7615889-7615890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559853488	chr4:7615920-7615921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544953942	chr4:7615930-7615931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367856172	chr4:7615934-7615935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187697281	chr4:7615974-7615975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116484841	chr4:7615975-7615976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114804544	chr4:7615982-7615983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532251577	chr4:7616002-7616003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564222350	chr4:7616021-7616022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528049570	chr4:7616068-7616069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140471740	chr4:7616099-7616100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568000391	chr4:7616200-7616201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529180050	chr4:7616208-7616209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550505970	chr4:7616211-7616212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115500077	chr4:7616217-7616218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539255303	chr4:7616264-7616265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192711532	chr4:7616265-7616266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150663059	chr4:7616323-7616324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374635404	chr4:7616338-7616339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184942828	chr4:7616370-7616371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534061676	chr4:7616376-7616377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111203704	chr4:7616391-7616392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150886591	chr4:7616425-7616426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573990315	chr4:7616432-7616433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62644756	chr4:7616442-7616443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544873248	chr4:7616454-7616455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556906259	chr4:7616460-7616461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187206063	chr4:7616475-7616476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139933366	chr4:7616487-7616488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560552789	chr4:7616495-7616496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371388961	chr4:7616505-7616506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528175814	chr4:7616523-7616524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142895796	chr4:7616558-7616559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561720059	chr4:7616569-7616570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374391490	chr4:7616571-7616572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7610400-7621400	Weak transcription	Brain Angular Gyrus	brain
2	chr4:7614800-7622600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7615200-7616800	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:7615400-7622200	Weak transcription	Brain Germinal Matrix	brain
5	chr4:7615600-7615800	Active TSS	Gastric	stomach

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