Variant report

Variant	nsv521864
Chromosome Location	chr10:16386748-16389315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:16378750..16381635-chr10:16385964..16388665,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6602097	chr10:16386748-16386749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546465805	chr10:16386767-16386768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534684684	chr10:16386810-16386811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571439346	chr10:16386878-16386879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532172200	chr10:16386890-16386891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542531816	chr10:16386910-16386911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560861868	chr10:16386912-16386913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542906494	chr10:16386916-16386917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111261444	chr10:16386928-16386929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569206597	chr10:16386932-16386933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72768682	chr10:16386935-16386936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74485927	chr10:16386936-16386937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184672653	chr10:16386943-16386944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562637521	chr10:16386946-16386947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115396521	chr10:16387074-16387075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs118170676	chr10:16387108-16387109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577385122	chr10:16387132-16387133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140751590	chr10:16387156-16387157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565415802	chr10:16387199-16387200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551735696	chr10:16387279-16387280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557024647	chr10:16387309-16387310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144582307	chr10:16387310-16387311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115778905	chr10:16387330-16387331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560587229	chr10:16387338-16387339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572474862	chr10:16387359-16387360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72768683	chr10:16387374-16387375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147855346	chr10:16387396-16387397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112185967	chr10:16387400-16387401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550547425	chr10:16387422-16387423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192620341	chr10:16387428-16387429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530251819	chr10:16387468-16387469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527706523	chr10:16387473-16387474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112985090	chr10:16387481-16387482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113435478	chr10:16387532-16387533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200414793	chr10:16387561-16387562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552845203	chr10:16387572-16387573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201035202	chr10:16387576-16387577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571013078	chr10:16387581-16387582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549658162	chr10:16387605-16387606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556523017	chr10:16387625-16387626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148468883	chr10:16387701-16387702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535960920	chr10:16387707-16387708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180924226	chr10:16387767-16387768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186234499	chr10:16387778-16387779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112489986	chr10:16387779-16387780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117097432	chr10:16387802-16387803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142620874	chr10:16387824-16387825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544478829	chr10:16387827-16387828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6602098	chr10:16387891-16387892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12262308	chr10:16387904-16387905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Breast cancer	22032731	CNVD
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
small cell lung cancer	20016488	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
Renal cell carcinoma	18765545	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
DiGeorge-Velo cardiofacial	22470819	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
Adrenocortical carcinoma	18281524	CNVD
Digeorge syndrome	17576883	CNVD
Lung cancer	16773561	CNVD
Velocardiofacial syndrome	17576883	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:16371800-16402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:16388600-16390600	Weak transcription	H1 Cell Line	embryonic stem cell

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