Variant report

Variant	esv20532
Chromosome Location	chr10:1480300-1482425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543976774	chr10:1480346-1480347	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560866011	chr10:1480361-1480362	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189911533	chr10:1480424-1480425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs118089843	chr10:1480432-1480433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559531777	chr10:1480470-1480471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72762985	chr10:1480489-1480490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116335204	chr10:1480569-1480570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138341033	chr10:1480588-1480589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531148840	chr10:1480592-1480593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551160422	chr10:1480604-1480605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567958340	chr10:1480636-1480637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147136583	chr10:1480650-1480651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200239341	chr10:1480651-1480652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566380421	chr10:1480665-1480666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538226560	chr10:1480710-1480711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558254542	chr10:1480727-1480728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34876751	chr10:1480738-1480739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558511131	chr10:1480740-1480741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36187245	chr10:1480745-1480746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374007465	chr10:1480764-1480765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11250509	chr10:1480803-1480804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574960993	chr10:1480810-1480811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537662197	chr10:1480825-1480826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554300355	chr10:1480832-1480833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574569334	chr10:1480833-1480834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372040517	chr10:1480847-1480848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540196400	chr10:1480861-1480862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74120611	chr10:1480874-1480875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11250510	chr10:1480875-1480876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560377510	chr10:1480877-1480878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71498800	chr10:1480884-1480885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573182677	chr10:1480889-1480890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71498801	chr10:1480900-1480901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545390498	chr10:1480910-1480911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565393652	chr10:1480918-1480919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530985179	chr10:1480925-1480926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551199671	chr10:1480935-1480936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12761442	chr10:1480940-1480941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71379122	chr10:1480965-1480966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12761463	chr10:1480966-1480967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71498802	chr10:1480967-1480968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55987942	chr10:1480974-1480975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12778346	chr10:1480983-1480984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2820647	chr10:1480984-1480985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372805100	chr10:1480985-1480986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12761479	chr10:1480991-1480992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12778352	chr10:1480992-1480993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561364014	chr10:1480993-1480994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71500103	chr10:1481006-1481007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78355249	chr10:1481021-1481022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1475800-1482200	Weak transcription	Gastric	stomach
2	chr10:1478000-1484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr10:1480200-1480400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:1480200-1480400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:1480200-1480400	Enhancers	Dnd41	blood
6	chr10:1480400-1482800	Weak transcription	Dnd41	blood
7	chr10:1482200-1483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:1482200-1483400	Enhancers	Gastric	stomach
9	chr10:1482400-1483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:1482400-1483200	Enhancers	Liver	Liver

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