Variant report

Variant	esv3413196
Chromosome Location	chr10:18275521-18275994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556889904	chr10:18275531-18275532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575129380	chr10:18275533-18275534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536018760	chr10:18275553-18275554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2437268	chr10:18275554-18275555	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368275715	chr10:18275567-18275568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs12251326	chr10:18275622-18275623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2497838	chr10:18275634-18275635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs137930408	chr10:18275636-18275637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78271772	chr10:18275637-18275638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72778337	chr10:18275650-18275651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188198998	chr10:18275655-18275656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529840547	chr10:18275685-18275686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548337026	chr10:18275686-18275687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560004758	chr10:18275695-18275696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527414609	chr10:18275793-18275794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142412431	chr10:18275810-18275811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55812394	chr10:18275823-18275824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537833168	chr10:18275826-18275827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550507097	chr10:18275829-18275830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568725917	chr10:18275863-18275864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2148599	chr10:18275883-18275884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181006924	chr10:18275893-18275894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572533910	chr10:18275898-18275899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559120329	chr10:18275926-18275927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2148598	chr10:18275951-18275952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2148597	chr10:18275957-18275958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576036645	chr10:18275986-18275987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18266800-18276400	Weak transcription	Brain Substantia Nigra	brain
2	chr10:18273400-18278400	Weak transcription	NHDF-Ad	bronchial
3	chr10:18273600-18278800	Weak transcription	NHEK	skin
4	chr10:18273600-18279000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr10:18273600-18279000	Weak transcription	Osteobl	bone
6	chr10:18273600-18282000	Weak transcription	Hela-S3	cervix
7	chr10:18273800-18278800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:18275000-18275600	ZNF genes & repeats	NHLF	lung

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