Variant report

Variant	esv3339607
Chromosome Location	chr10:18508696-18509794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369112388	chr10:18508701-18508702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55812855	chr10:18508702-18508703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538760074	chr10:18508703-18508704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111908931	chr10:18508809-18508810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374923764	chr10:18508823-18508824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193286750	chr10:18508857-18508858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12571294	chr10:18508859-18508860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558027703	chr10:18508887-18508888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113733115	chr10:18508898-18508899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572069111	chr10:18508915-18508916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114718583	chr10:18508916-18508917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146546379	chr10:18508937-18508938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386741530	chr10:18508939-18508940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12571308	chr10:18508945-18508946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531199071	chr10:18508987-18508988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7086881	chr10:18509042-18509043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2489203	chr10:18509085-18509086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367891414	chr10:18509089-18509090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12253254	chr10:18509091-18509092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7080329	chr10:18509099-18509100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7080333	chr10:18509105-18509106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7904818	chr10:18509115-18509116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7914910	chr10:18509117-18509118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189115405	chr10:18509121-18509122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11013056	chr10:18509122-18509123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4481925	chr10:18509132-18509133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185498530	chr10:18509144-18509145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189658419	chr10:18509146-18509147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180944277	chr10:18509148-18509149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543755042	chr10:18509150-18509151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562249764	chr10:18509152-18509153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529553152	chr10:18509154-18509155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200788168	chr10:18509157-18509158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201755495	chr10:18509159-18509160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2489202	chr10:18509161-18509162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11013057	chr10:18509163-18509164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11013058	chr10:18509165-18509166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547690961	chr10:18509191-18509192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566239688	chr10:18509192-18509193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7911072	chr10:18509205-18509206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7911082	chr10:18509220-18509221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578171341	chr10:18509365-18509366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111689094	chr10:18509367-18509368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534134055	chr10:18509369-18509370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185959329	chr10:18509370-18509371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570110154	chr10:18509382-18509383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537445595	chr10:18509383-18509384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555757115	chr10:18509388-18509389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568279232	chr10:18509424-18509425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148088051	chr10:18509447-18509448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	19287155	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18499200-18511000	Weak transcription	Aorta	Aorta
2	chr10:18502400-18513600	Weak transcription	Right Ventricle	heart
3	chr10:18504400-18510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr10:18504800-18513400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:18505400-18513400	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:18506000-18512800	Weak transcription	Fetal Lung	lung
7	chr10:18506200-18513600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:18506800-18513600	Weak transcription	Pancreas	Pancrea
9	chr10:18507000-18513600	Weak transcription	Ovary	ovary
10	chr10:18507200-18509600	Weak transcription	Fetal Heart	heart
11	chr10:18507600-18508800	Enhancers	NHEK	skin
12	chr10:18507800-18508800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:18508000-18508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:18508400-18508800	Enhancers	Brain Anterior Caudate	brain
15	chr10:18508400-18509400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:18508400-18510000	Enhancers	Left Ventricle	heart
17	chr10:18508600-18509600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr10:18508600-18511800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:18508600-18513000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:18508800-18511800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:18508800-18512400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:18508800-18513200	Weak transcription	Brain Anterior Caudate	brain
23	chr10:18509400-18509600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:18509600-18509800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr10:18509600-18510200	Enhancers	Stomach Smooth Muscle	stomach
26	chr10:18509600-18511400	Enhancers	Fetal Heart	heart

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