Variant report

Variant	esv3390952
Chromosome Location	chr7:14680576-14681306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563137937	chr7:14680607-14680608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529080271	chr7:14680609-14680610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112913198	chr7:14680617-14680618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565784038	chr7:14680621-14680622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17667513	chr7:14680668-14680669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551358025	chr7:14680676-14680677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114301582	chr7:14680690-14680691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4424153	chr7:14680700-14680701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556926501	chr7:14680717-14680718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570249874	chr7:14680736-14680737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144954795	chr7:14680740-14680741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555553974	chr7:14680741-14680742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572505951	chr7:14680744-14680745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73680205	chr7:14680753-14680754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs62445637	chr7:14680774-14680775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147559814	chr7:14680820-14680821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35885928	chr7:14680828-14680829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200825768	chr7:14680890-14680891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190576368	chr7:14680891-14680892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577663540	chr7:14680903-14680904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543289183	chr7:14680905-14680906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563277603	chr7:14680906-14680907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202022129	chr7:14680909-14680910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200150540	chr7:14680910-14680911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566454379	chr7:14680911-14680912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542746888	chr7:14680912-14680913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16878249	chr7:14681014-14681015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182973477	chr7:14681019-14681020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542828357	chr7:14681042-14681043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559135652	chr7:14681052-14681053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565391543	chr7:14681094-14681095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187308553	chr7:14681121-14681122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71004321	chr7:14681123-14681124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528196789	chr7:14681148-14681149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77355347	chr7:14681245-14681246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2204409	chr7:14681247-14681248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14679200-14683200	Weak transcription	Pancreas	Pancrea
2	chr7:14680400-14684800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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