Variant report

Variant	esv3478233
Chromosome Location	chr7:3809257-3810635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147932254	chr7:3809297-3809298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192586989	chr7:3809323-3809324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373412311	chr7:3809332-3809333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116269385	chr7:3809349-3809350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564748610	chr7:3809363-3809364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533716366	chr7:3809391-3809392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140046738	chr7:3809394-3809395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73306113	chr7:3809435-3809436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372513043	chr7:3809436-3809437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112783477	chr7:3809447-3809448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113357749	chr7:3809457-3809458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531398011	chr7:3809466-3809467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111334413	chr7:3809468-3809469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571369731	chr7:3809473-3809474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534068890	chr7:3809495-3809496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547380235	chr7:3809509-3809510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144961469	chr7:3809533-3809534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182727395	chr7:3809537-3809538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556291721	chr7:3809546-3809547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10252145	chr7:3809548-3809549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538426575	chr7:3809557-3809558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34066132	chr7:3809568-3809569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371754462	chr7:3809569-3809570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142212040	chr7:3809578-3809579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149055010	chr7:3809580-3809581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71029693	chr7:3809601-3809602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116808207	chr7:3809650-3809651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60494036	chr7:3809660-3809661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375743663	chr7:3809696-3809697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573965860	chr7:3809715-3809716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368653684	chr7:3809736-3809737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34880896	chr7:3809755-3809756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562618965	chr7:3809783-3809784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369169040	chr7:3809809-3809810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58045303	chr7:3809835-3809836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537144102	chr7:3809837-3809838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59268219	chr7:3809841-3809842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527506236	chr7:3809851-3809852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547664068	chr7:3809912-3809913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117006913	chr7:3809915-3809916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536232291	chr7:3809916-3809917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188418034	chr7:3809918-3809919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569686566	chr7:3809932-3809933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538707478	chr7:3809960-3809961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192896208	chr7:3810003-3810004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532605524	chr7:3810005-3810006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73306117	chr7:3810008-3810009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534165563	chr7:3810022-3810023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554441949	chr7:3810026-3810027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574020121	chr7:3810054-3810055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3773000-3820000	Weak transcription	Pancreas	Pancrea
2	chr7:3802000-3810400	Weak transcription	Aorta	Aorta
3	chr7:3808400-3809400	Weak transcription	Fetal Brain Male	brain
4	chr7:3809400-3809600	Enhancers	Fetal Brain Male	brain
5	chr7:3810200-3811000	Enhancers	Spleen	Spleen
6	chr7:3810400-3811000	ZNF genes & repeats	Aorta	Aorta
7	chr7:3810600-3811000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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