Variant report

Variant	esv1007439
Chromosome Location	chr10:5216971-5226919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 540 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553413863	chr10:5216989-5216990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569492867	chr10:5217009-5217010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535976775	chr10:5217038-5217039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113175626	chr10:5217094-5217095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34882569	chr10:5217152-5217153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185808208	chr10:5217164-5217165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531078141	chr10:5217167-5217168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189647486	chr10:5217184-5217185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181183361	chr10:5217185-5217186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577069472	chr10:5217194-5217195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186769957	chr10:5217210-5217211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558938402	chr10:5217211-5217212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191670793	chr10:5217261-5217262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377126129	chr10:5217286-5217287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368433309	chr10:5217287-5217288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34573009	chr10:5217302-5217303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183433900	chr10:5217306-5217307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186256474	chr10:5217308-5217309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564585820	chr10:5217313-5217314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528812235	chr10:5217331-5217332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546989356	chr10:5217374-5217375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12571984	chr10:5217377-5217378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568444249	chr10:5217382-5217383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375297086	chr10:5217387-5217388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369322007	chr10:5217400-5217401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372659611	chr10:5217407-5217408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189832051	chr10:5217437-5217438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34606065	chr10:5217459-5217460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558724627	chr10:5217465-5217466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577027722	chr10:5217470-5217471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534625358	chr10:5217489-5217490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529669976	chr10:5217508-5217509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552877743	chr10:5217509-5217510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182156646	chr10:5217511-5217512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547848936	chr10:5217530-5217531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575308757	chr10:5217557-5217558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35914949	chr10:5217571-5217572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564726877	chr10:5217574-5217575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528726570	chr10:5217592-5217593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547301267	chr10:5217624-5217625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562412500	chr10:5217628-5217629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529298603	chr10:5217644-5217645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199709322	chr10:5217648-5217649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550954285	chr10:5217657-5217658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569211922	chr10:5217658-5217659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201007971	chr10:5217659-5217660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539935934	chr10:5217666-5217667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552056827	chr10:5217683-5217684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142057362	chr10:5217697-5217698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201639742	chr10:5217700-5217701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5214000-5222000	Weak transcription	Liver	Liver
2	chr10:5222000-5223000	Strong transcription	Liver	Liver
3	chr10:5223000-5223400	Weak transcription	Liver	Liver
4	chr10:5223400-5225800	Active TSS	Liver	Liver
5	chr10:5225600-5226400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:5225800-5226000	Enhancers	Fetal Kidney	kidney
7	chr10:5225800-5226200	Flanking Active TSS	Liver	Liver
8	chr10:5226000-5226200	Enhancers	HepG2	liver
9	chr10:5226000-5226800	Enhancers	Adipose Nuclei	Adipose
10	chr10:5226000-5226800	Weak transcription	Fetal Kidney	kidney
11	chr10:5226200-5226600	Active TSS	Liver	Liver
12	chr10:5226200-5230000	Weak transcription	HepG2	liver
13	chr10:5226400-5227000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:5226600-5226800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:5226600-5227400	Flanking Active TSS	Liver	Liver
16	chr10:5226800-5227200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:5226800-5227200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr10:5226800-5228200	Enhancers	Fetal Kidney	kidney

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