Variant report

Variant	esv3396343
Chromosome Location	chr7:5191626-5193624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113461281	chr7:5191661-5191662	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs570024465	chr7:5191699-5191700	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542447025	chr7:5191709-5191710	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73676518	chr7:5191715-5191716	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549559585	chr7:5191719-5191720	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568039899	chr7:5191724-5191725	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535224417	chr7:5191750-5191751	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549895945	chr7:5191772-5191773	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376133240	chr7:5191804-5191805	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs146043014	chr7:5191808-5191809	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557935010	chr7:5191819-5191820	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs576448809	chr7:5191854-5191855	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs180730495	chr7:5191867-5191868	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187565369	chr7:5191895-5191896	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190500639	chr7:5191896-5191897	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541040205	chr7:5191904-5191905	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs552030556	chr7:5191922-5191923	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559439186	chr7:5191948-5191949	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111775094	chr7:5191957-5191958	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs533215672	chr7:5191986-5191987	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10238849	chr7:5192081-5192082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563537771	chr7:5192129-5192130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531149927	chr7:5192150-5192151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182326316	chr7:5192182-5192183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549637998	chr7:5192235-5192236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567834726	chr7:5192271-5192272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543370044	chr7:5192284-5192285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186946477	chr7:5192285-5192286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62442020	chr7:5192303-5192304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78681707	chr7:5192321-5192322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75963219	chr7:5192322-5192323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112764274	chr7:5192355-5192356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565783272	chr7:5192389-5192390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535429363	chr7:5192403-5192404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199795498	chr7:5192449-5192450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201193481	chr7:5192452-5192453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539534556	chr7:5192511-5192512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201543774	chr7:5192523-5192524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150737791	chr7:5192605-5192606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570237699	chr7:5192609-5192610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77642077	chr7:5192623-5192624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569848745	chr7:5192633-5192634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190450653	chr7:5192701-5192702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62442021	chr7:5192729-5192730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539725045	chr7:5192730-5192731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551347699	chr7:5192745-5192746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569875610	chr7:5192750-5192751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555658583	chr7:5192753-5192754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573821932	chr7:5192754-5192755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541427475	chr7:5192756-5192757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5191000-5191800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:5191200-5191800	Active TSS	Muscle Satellite Cultured Cells	--
3	chr7:5191400-5191800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:5191400-5191800	Flanking Active TSS	Hela-S3	cervix
5	chr7:5191600-5191800	Flanking Active TSS	A549	lung
6	chr7:5191600-5191800	Flanking Active TSS	HUVEC	blood vessel
7	chr7:5191800-5192000	Active TSS	Hela-S3	cervix
8	chr7:5191800-5196800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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