Variant report

Variant	esv1808218
Chromosome Location	chr10:52437788-52448303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 570 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574094257	chr10:52437798-52437799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539969290	chr10:52437802-52437803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560180008	chr10:52437805-52437806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115166027	chr10:52437817-52437818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546002022	chr10:52437820-52437821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562496685	chr10:52437850-52437851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183572743	chr10:52437879-52437880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548494000	chr10:52437915-52437916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78741344	chr10:52438036-52438037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572317610	chr10:52438045-52438046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61027189	chr10:52438051-52438052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs57253864	chr10:52438099-52438100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4041393	chr10:52438108-52438109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3881481	chr10:52438113-52438114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369664	chr10:52438123-52438124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55703887	chr10:52438147-52438148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539517457	chr10:52438148-52438149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3881483	chr10:52438183-52438184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372579279	chr10:52438212-52438213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190689149	chr10:52438249-52438250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181979843	chr10:52438264-52438265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116692321	chr10:52438267-52438268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4041397	chr10:52438280-52438281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374584885	chr10:52438290-52438291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539858385	chr10:52438294-52438295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553463339	chr10:52438304-52438305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186969028	chr10:52438334-52438335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562743271	chr10:52438446-52438447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57073115	chr10:52438480-52438481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532502797	chr10:52438481-52438482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542172780	chr10:52438484-52438485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552713575	chr10:52438491-52438492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148727894	chr10:52438502-52438503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572170228	chr10:52438508-52438509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142340983	chr10:52438524-52438525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534836419	chr10:52438538-52438539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564273828	chr10:52438547-52438548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61518314	chr10:52438586-52438587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550005831	chr10:52438598-52438599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61615406	chr10:52438599-52438600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189828751	chr10:52438615-52438616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549134249	chr10:52438660-52438661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181560222	chr10:52438666-52438667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185881266	chr10:52438671-52438672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190153502	chr10:52438690-52438691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576754798	chr10:52438703-52438704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182424935	chr10:52438722-52438723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145248557	chr10:52438744-52438745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576338407	chr10:52438753-52438754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542058784	chr10:52438793-52438794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52435000-52452400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:52435800-52440400	Weak transcription	K562	blood
3	chr10:52437200-52437800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr10:52437800-52438000	Weak transcription	Spleen	Spleen
5	chr10:52438000-52438200	Enhancers	Spleen	Spleen
6	chr10:52438200-52462000	Weak transcription	Spleen	Spleen
7	chr10:52438600-52439200	Enhancers	Lung	lung
8	chr10:52438800-52439200	Bivalent/Poised TSS	HepG2	liver
9	chr10:52440400-52440800	Enhancers	K562	blood
10	chr10:52441400-52441600	Enhancers	Right Atrium	heart
11	chr10:52441400-52441800	Enhancers	Right Ventricle	heart
12	chr10:52441600-52446200	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links