Variant report

Variant	esv3496506
Chromosome Location	chr10:767977-770825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 230 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527647790	chr10:768051-768052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547785415	chr10:768076-768077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7904978	chr10:768078-768079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549667536	chr10:768093-768094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7923867	chr10:768094-768095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1750796	chr10:768096-768097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185564178	chr10:768098-768099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190811919	chr10:768114-768115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7915228	chr10:768126-768127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568161227	chr10:768171-768172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77130110	chr10:768173-768174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1769228	chr10:768229-768230	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145065966	chr10:768243-768244	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138932145	chr10:768261-768262	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182608080	chr10:768267-768268	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556791786	chr10:768276-768277	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576662040	chr10:768277-768278	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542452400	chr10:768317-768318	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188952906	chr10:768358-768359	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11253355	chr10:768367-768368	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs193241353	chr10:768428-768429	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183013076	chr10:768476-768477	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562904572	chr10:768502-768503	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142152443	chr10:768503-768504	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10904548	chr10:768518-768519	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs377654153	chr10:768545-768546	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531845365	chr10:768573-768574	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116339367	chr10:768598-768599	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11253356	chr10:768604-768605	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116199531	chr10:768605-768606	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12263451	chr10:768611-768612	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570474629	chr10:768634-768635	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376053472	chr10:768644-768645	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143792327	chr10:768665-768666	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187302295	chr10:768670-768671	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148165586	chr10:768672-768673	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55818232	chr10:768725-768726	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570804607	chr10:768738-768739	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373918228	chr10:768743-768744	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191983195	chr10:768745-768746	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541555963	chr10:768809-768810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531973274	chr10:768810-768811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557866923	chr10:768882-768883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184055022	chr10:768904-768905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543424179	chr10:768913-768914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551804842	chr10:768933-768934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150504698	chr10:768942-768943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189693901	chr10:768965-768966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114125103	chr10:768966-768967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561958710	chr10:768968-768969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:761000-768200	Weak transcription	Placenta	Placenta
2	chr10:761000-768400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:764800-772000	Weak transcription	Right Atrium	heart
4	chr10:767800-768400	Weak transcription	Spleen	Spleen
5	chr10:768200-768600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:768200-769000	Enhancers	Placenta	Placenta
7	chr10:768400-768600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:768400-768600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:768400-768600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:768400-768600	Genic enhancers	Spleen	Spleen
11	chr10:768600-768800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:768600-770000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:768600-771400	Weak transcription	Spleen	Spleen
14	chr10:769000-771600	Weak transcription	Placenta	Placenta
15	chr10:770000-770200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:770000-770200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:770000-770400	Enhancers	Pancreas	Pancrea
18	chr10:770200-771800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:770800-771000	Weak transcription	Esophagus	oesophagus
20	chr10:770800-772200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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