Variant report

Variant	nsv550125
Chromosome Location	chr10:19257664-19259024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10740814	chr10:19257664-19257665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs118019188	chr10:19257685-19257686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537620888	chr10:19257712-19257713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549633435	chr10:19257721-19257722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11007884	chr10:19257783-19257784	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555424784	chr10:19257817-19257818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577619447	chr10:19257824-19257825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371731593	chr10:19257831-19257832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534731197	chr10:19257833-19257834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142214758	chr10:19257879-19257880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577574417	chr10:19257883-19257884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11007885	chr10:19257913-19257914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs151223986	chr10:19257914-19257915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573709187	chr10:19257926-19257927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7077590	chr10:19257958-19257959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542395685	chr10:19257965-19257966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542341609	chr10:19257998-19257999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140420679	chr10:19258005-19258006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189716379	chr10:19258022-19258023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150407746	chr10:19258027-19258028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182062491	chr10:19258042-19258043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531008121	chr10:19258071-19258072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187909744	chr10:19258077-19258078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551783053	chr10:19258081-19258082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563812507	chr10:19258087-19258088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115497019	chr10:19258149-19258150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549572142	chr10:19258177-19258178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138359042	chr10:19258183-19258184	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19256600-19257800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19256600-19258200	Enhancers	Fetal Intestine Large	intestine
3	chr10:19257800-19258000	Enhancers	Fetal Intestine Small	intestine

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