Variant report

Variant	esv3446987
Chromosome Location	chr7:3845388-3846340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191949574	chr7:3845436-3845437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576107903	chr7:3845439-3845440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545209153	chr7:3845469-3845470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78664421	chr7:3845483-3845484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572041353	chr7:3845503-3845504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540601800	chr7:3845506-3845507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34814986	chr7:3845509-3845510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112878311	chr7:3845525-3845526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549702561	chr7:3845540-3845541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73308046	chr7:3845548-3845549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563420752	chr7:3845550-3845551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559643498	chr7:3845561-3845562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571565911	chr7:3845591-3845592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531777358	chr7:3845592-3845593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551985698	chr7:3845594-3845595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571950940	chr7:3845621-3845622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78438985	chr7:3845627-3845628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184417974	chr7:3845635-3845636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186843798	chr7:3845638-3845639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112086308	chr7:3845639-3845640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556382453	chr7:3845646-3845647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191732482	chr7:3845678-3845679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556352097	chr7:3845688-3845689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12701173	chr7:3845702-3845703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538438069	chr7:3845705-3845706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545182728	chr7:3845731-3845732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114927524	chr7:3845748-3845749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184447878	chr7:3845749-3845750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532284598	chr7:3845781-3845782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554451868	chr7:3845803-3845804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574324517	chr7:3845814-3845815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547423799	chr7:3845822-3845823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563222331	chr7:3845827-3845828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79006551	chr7:3845847-3845848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189274120	chr7:3845853-3845854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146882240	chr7:3845866-3845867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140694605	chr7:3845867-3845868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10255254	chr7:3845882-3845883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116263005	chr7:3845886-3845887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111346065	chr7:3845893-3845894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550180994	chr7:3845905-3845906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373157106	chr7:3845922-3845923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539169645	chr7:3845937-3845938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182312942	chr7:3845938-3845939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565497908	chr7:3845943-3845944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10245243	chr7:3845957-3845958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10255367	chr7:3845958-3845959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574712792	chr7:3845960-3845961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377696701	chr7:3845963-3845964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556966850	chr7:3845965-3845966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3827000-3857200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3830800-3859800	Weak transcription	Pancreas	Pancrea
3	chr7:3833600-3847600	Weak transcription	Aorta	Aorta
4	chr7:3841400-3847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3843600-3848800	Weak transcription	Fetal Stomach	stomach
6	chr7:3844000-3845600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:3845000-3846000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:3845800-3846000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:3846000-3848800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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