Variant report

Variant	esv3445960
Chromosome Location	chr7:14917777-14919975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555659418	chr7:14919003-14919004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531903283	chr7:14919008-14919009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565980020	chr7:14919040-14919041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534779673	chr7:14919076-14919077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548933768	chr7:14919087-14919088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577646823	chr7:14919092-14919093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183254080	chr7:14919097-14919098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372483703	chr7:14919116-14919117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543534647	chr7:14919121-14919122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556681841	chr7:14919196-14919197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573344231	chr7:14919229-14919230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374802907	chr7:14919234-14919235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116937762	chr7:14919235-14919236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534209563	chr7:14919238-14919239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572199536	chr7:14919245-14919246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370998245	chr7:14919256-14919257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528000111	chr7:14919286-14919287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541193426	chr7:14919297-14919298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117994687	chr7:14919317-14919318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188672506	chr7:14919332-14919333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6963154	chr7:14919378-14919379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs193044852	chr7:14919389-14919390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75576838	chr7:14919390-14919391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538777418	chr7:14919471-14919472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150655046	chr7:14919474-14919475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554768173	chr7:14919488-14919489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138898482	chr7:14919508-14919509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111648913	chr7:14919529-14919530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534948587	chr7:14919530-14919531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557645316	chr7:14919550-14919551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571468228	chr7:14919590-14919591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2191350	chr7:14919646-14919647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181756168	chr7:14919686-14919687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573404861	chr7:14919689-14919690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542188060	chr7:14919778-14919779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552566515	chr7:14919790-14919791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572390924	chr7:14919818-14919819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149421913	chr7:14919846-14919847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10281892	chr7:14919852-14919853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533527903	chr7:14919867-14919868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201684159	chr7:14919869-14919870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34911059	chr7:14919870-14919871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187880172	chr7:14919883-14919884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111352072	chr7:14919912-14919913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529420298	chr7:14919914-14919915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183775805	chr7:14919941-14919942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576863061	chr7:14919945-14919946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189418075	chr7:14919966-14919967	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14919000-14919800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:14919600-14920000	Enhancers	Placenta Amnion	Placenta Amnion

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