Variant report

Variant	esv10599
Chromosome Location	chr7:11602763-11604286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6979362	chr7:11602765-11602766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562146082	chr7:11602776-11602777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11392778	chr7:11602824-11602825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537059127	chr7:11602825-11602826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539623599	chr7:11602826-11602827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531252913	chr7:11602832-11602833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147732803	chr7:11602836-11602837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568093682	chr7:11602862-11602863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533861862	chr7:11602875-11602876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548034756	chr7:11602887-11602888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571026504	chr7:11602890-11602891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16	chr7:11602899-11602900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540224280	chr7:11602906-11602907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556851044	chr7:11602930-11602931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs15	chr7:11602932-11602933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557375273	chr7:11602951-11602952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555718350	chr7:11602964-11602965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6979815	chr7:11602966-11602967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140928758	chr7:11602971-11602972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559923299	chr7:11602993-11602994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142384015	chr7:11603027-11603028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545588449	chr7:11603070-11603071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190031432	chr7:11603072-11603073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562679026	chr7:11603118-11603119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115259293	chr7:11603137-11603138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371147254	chr7:11603142-11603143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547902382	chr7:11603145-11603146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544939906	chr7:11603149-11603150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182660086	chr7:11603162-11603163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111515242	chr7:11603163-11603164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573753805	chr7:11603175-11603176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12699233	chr7:11603231-11603232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547475857	chr7:11603233-11603234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571061071	chr7:11603249-11603250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540086124	chr7:11603252-11603253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188049301	chr7:11603266-11603267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570288594	chr7:11603268-11603269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140512466	chr7:11603284-11603285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6980325	chr7:11603287-11603288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs16876959	chr7:11603298-11603299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6945941	chr7:11603336-11603337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534794335	chr7:11603386-11603387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6945973	chr7:11603405-11603406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577704817	chr7:11603413-11603414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540853390	chr7:11603437-11603438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545625539	chr7:11603479-11603480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190928028	chr7:11603486-11603487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560506617	chr7:11603491-11603492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576277322	chr7:11603519-11603520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527763698	chr7:11603524-11603525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
2	chr7:11602800-11606800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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