Variant report

Variant	nsv948005
Chromosome Location	chr10:52024916-52032573
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	chr10:52030038..52033991-chr10:52034749..52038715,4	MCF-7	breast:
2	chr10:52029815..52033760-chr10:52034548..52037259,4	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148498839	chr10:52025601-52025602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529388025	chr10:52025617-52025618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34093766	chr10:52025631-52025632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151050602	chr10:52025704-52025705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111771062	chr10:52025727-52025728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184981549	chr10:52025741-52025742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570440380	chr10:52025776-52025777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139944733	chr10:52025793-52025794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3832646	chr10:52025794-52025795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201891596	chr10:52025796-52025797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397840760	chr10:52025804-52025805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539385880	chr10:52025813-52025814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140985464	chr10:52025821-52025822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576041815	chr10:52025831-52025832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535208460	chr10:52025852-52025853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555135219	chr10:52025853-52025854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145073174	chr10:52025867-52025868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540907732	chr10:52025891-52025892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564076242	chr10:52025933-52025934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577872441	chr10:52025968-52025969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2813294	chr10:52025987-52025988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs386743619	chr10:52025989-52025990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145525402	chr10:52025990-52025991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549539392	chr10:52026003-52026004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369295571	chr10:52026024-52026025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2574944	chr10:52026040-52026041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111379329	chr10:52026050-52026051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138093924	chr10:52026055-52026056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571882543	chr10:52026096-52026097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143027218	chr10:52026131-52026132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549711711	chr10:52026145-52026146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569593161	chr10:52026146-52026147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535535877	chr10:52026152-52026153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372883480	chr10:52026158-52026159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571896518	chr10:52026160-52026161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2574946	chr10:52026161-52026162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141193764	chr10:52026171-52026172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189395381	chr10:52026194-52026195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111888877	chr10:52026204-52026205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543359995	chr10:52026235-52026236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557312973	chr10:52026270-52026271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573996500	chr10:52026288-52026289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543120993	chr10:52026289-52026290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552883182	chr10:52026295-52026296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559920164	chr10:52026301-52026302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528619080	chr10:52026335-52026336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545572616	chr10:52026406-52026407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565347555	chr10:52026417-52026418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574816573	chr10:52026428-52026429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373785828	chr10:52026432-52026433	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
Autism	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52025600-52026600	Enhancers	Brain Hippocampus Middle	brain
2	chr10:52025800-52026400	Enhancers	Brain Cingulate Gyrus	brain
3	chr10:52031000-52033200	Enhancers	K562	blood

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